XP-C
MCID: XRD019
MIFTS: 52

Xeroderma Pigmentosum, Group C (XP-C) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group C

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Aliases & Descriptions for Xeroderma Pigmentosum, Group C:

Name: Xeroderma Pigmentosum, Group C 52 12
Xeroderma Pigmentosum Group C 11 27 13
Xeroderma Pigmentosum Iii 11 70
Xp Group C 11 70
Xpcc 11 70
Xp3 11 70
 
Xpc 11 70
Xeroderma Pigmentosum, Complementation Group C 68
Xeroderma Pigmentosum Complementation Group C 70
Xeroderma Pigmentosum, Type 3 48
Xp-C 70

Characteristics:

HPO:

64
xeroderma pigmentosum, group c:
Inheritance: autosomal recessive inheritance
Onset and clinical course: childhood onset

Classifications:



External Ids:

OMIM52 278720
Disease Ontology11 DOID:0110844
ICD1030 Q82.1
MedGen37 C2752147
MeSH39 D014983

Summaries for Xeroderma Pigmentosum, Group C

About this section
OMIM:52 Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet... (278720) more...

MalaCards based summary: Xeroderma Pigmentosum, Group C, also known as xeroderma pigmentosum group c, is related to xpc-related xeroderma pigmentosum and xeroderma pigmentosum, group a, and has symptoms including photophobia, photophobia and keratitis. An important gene associated with Xeroderma Pigmentosum, Group C is XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor), and among its related pathways are p53 Pathway (RnD) and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include skin, lung and liver, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and neoplasm.

Disease Ontology:11 A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has material basis in mutation in the XPC gene on chromosome 3p25.

UniProtKB/Swiss-Prot:70 Xeroderma pigmentosum complementation group C: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities.

Related Diseases for Xeroderma Pigmentosum, Group C

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Diseases in the Xeroderma Pigmentosum Group E family:

Xeroderma Pigmentosum, Group B xeroderma pigmentosum, group c
Xeroderma Pigmentosum, Group a Xeroderma Pigmentosum, Group G
Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum, Group D

Diseases related to Xeroderma Pigmentosum, Group C via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1xpc-related xeroderma pigmentosum12.1
2xeroderma pigmentosum, group a11.5
3urinary bladder cancer11.2
4neuroblastoma, susceptibility11.2
5melanoma10.2
6supranuclear palsy, progressive, 310.2DDB2, XPC
7lung cancer10.1
8cockayne syndrome10.1
9bone marrow failure syndrome 210.0XPA, XPC
10skin papilloma10.0XPA, XPC
11confetti-like macular atrophy10.0ERCC2, ERCC3
12charcot-marie-tooth disease type 2a10.0ERCC2, ERCC3
13hiv-110.0
14hepatocellular carcinoma10.0
15breast cancer10.0
16ovarian cancer10.0
17basal cell carcinoma10.0
18cockayne syndrome, type a9.9
19nasopharyngeal carcinoma9.9
20xeroderma pigmentosum, group d9.9
21nasopharyngitis9.9
22adenocarcinoma9.9
23testicular cancer9.9
24thymus lymphoma9.9ERCC2, XPA
25autoimmune disease 39.9ERCC2, ERCC3
26congenital stationary night blindness 1h9.9DDB2, RAD23B, XPA, XPC
27qazi markouizos syndrome9.8ERCC2, ERCC3, XPA
28t-cell large granular lymphocyte leukemia9.8ERCC2, ERCC3, XPA
29bile acid malabsorption, primary9.8DDB2, ERCC3, RAD23B, XPA
30mycobacterium kansasii9.8ERCC2, RAD23B, XPA, XPC
31fanconi anemia, complementation group q9.8DDB2, ERCC2, RAD23B, XPA
32specific language impairment9.7ERCC2, ERCC3, ERCC8
333-methylglutaconic aciduria, type iii9.7ERCC2, ERCC3, RAD23B, XPA
34cerebrooculofacioskeletal syndrome 29.6ERCC2, ERCC3, RAD23B, XPA, XPC
35trichothiodystrophy 2, photosensitive9.5ERCC2, ERCC3, GTF2H1, RAD23B, XPA
36renal artery obstruction9.3DDB2, ERCC2, ERCC3, ERCC8, XPA, XPC
37retinitis pigmentosa 7 and digenic9.2DDB2, ERCC2, ERCC3, ERCC8, RAD23B, XPA
38myoclonic-atonic epilepsy8.8DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Group C:



Diseases related to xeroderma pigmentosum, group c

Symptoms & Phenotypes for Xeroderma Pigmentosum, Group C

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Symptoms by clinical synopsis from OMIM:

278720

Clinical features from OMIM:

278720

Human phenotypes related to Xeroderma Pigmentosum, Group C:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 keratitis64 HP:0000491
2 conjunctivitis64 HP:0000509
3 photophobia64 HP:0000613
4 entropion64 HP:0000621
5 ectropion64 HP:0000656
6 cutaneous photosensitivity64 HP:0000992
7 telangiectasia64 HP:0001009
8 hypopigmentation of the skin64 HP:0001010
9 poikiloderma64 HP:0001029
10 basal cell carcinoma64 HP:0002671
11 defective dna repair after ultraviolet radiation damage64 HP:0003079
12 dermal atrophy64 HP:0004334
13 squamous cell carcinoma of the skin64 HP:0006739
14 cutaneous melanoma64 HP:0012056

UMLS symptoms related to Xeroderma Pigmentosum, Group C:


photophobia

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Group C according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-37.3DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group C according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.2DDB2, ERCC2, ERCC3, ERCC8, XPA, XPC
2MP:00053788.0DDB2, ERCC2, ERCC3, ERCC8, RAD23B, XPA
3MP:00107717.9DDB2, ERCC2, ERCC3, ERCC8, RAD23B, XPA
4MP:00053767.9ERCC2, ERCC3, ERCC8, RAD23B, UVRAG, XPA
5MP:00053847.5DDB2, ERCC2, ERCC3, ERCC8, RAD23B, UVRAG
6MP:00053917.5ERCC2, ERCC3, ERCC8, RAD23B, XPA, XPC

Drugs & Therapeutics for Xeroderma Pigmentosum, Group C

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Drugs for Xeroderma Pigmentosum, Group C (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 2, Phase 1383651-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
2
CarbidopaapprovedPhase 2, Phase 118428860-95-934359, 38101
Synonyms:
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazino-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid--water (1/1)
(S)-(-)-carbidopa
(S)-(-)-carbidopa hydrate
(S)-(−)-carbidopa
(S)-alpha--Hydrazino-3,4-dihydroxy-alpha--methyl-benzenepropanoic acid monohydrate
(S)-carbidopa
(S)-carbidopa hydrate
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
(αS)-α-hydrazino-3,4-dihydroxy-α-methylbenzenepropanoic acid
27925-91-3
28860-95-9
31823-41-3
38821-49-7
AC-1676
AC1L1RFR
AC1L1Z32
AC1Q5QGW
Atamet
BB_SC-5095
Benzenepropanoic acid, alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate, (S)
C-126
C-DOPA
C126_SIGMA
C1335_SIGMA
CCRIS 5093
CHEBI:3395
CHEBI:39585
CHEMBL1200748
CHEMBL1201236
CID34359
CID38101
CPD-11550
Carbidopa (anhydrous)
Carbidopa Anhydrous
Carbidopa Monohydrate
Carbidopa [USAN:INN:BAN]
Carbidopa anhydrous
Carbidopa hydrate
Carbidopa, (S)-Isomer
Carbidopa, Entacapone, & Levodopa
Carbidopa-1-wasser
 
Carbidopum
Carbidopum [INN-Latin]
DB00190
EINECS 249-271-9
EU-0100382
HMS2089B12
Hadrazino-alpha-methyldopa
Hydrocinnamic acid, (-)-L-alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate
KINSON, 3-(3,4-DIHYDROXY-PHENYL)-2-HYDRAZINO-2-METHYL-PROPIONIC ACID
L-3-(3,4-Dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-3-(3,4-dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-alpha-(3,4-dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
L-alpha-Methyl-alpha-hydrazino-beta-(3,4-dihydroxyphenylpropionic acid
L-alpha-Methyl-beta-(3,4-dihydroxyphenyl)-alpha-hydrazinopropionic acid
L-alpha-Methyldopahydrazine
L-α-methyldopahydrazine
LS-77199
Lodosin
Lodosyn
Lodosyn, Carbidopa
Lopac0_000382
MK 486
MK-485
MK-486
MLS000069628
MLS002207014
Methyldopahydrazine
MolPort-003-940-629
MolPort-005-934-181
N-Aminomethyldopa
NCGC00024596-01
NCGC00024596-03
NCGC00024596-05
NCGC00024596-06
S(-)-CARBIDOPA
S(-)-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
S-(-)-Carbidopa
S-(-)-alpha-Hydrazino-3,4-dihydroxy-2-methylbenzenepropanoic acid
S1891_Selleck
SMP1_000057
SMR000058235
ST055523
Stalevo
Tocris-0455
UNII-KR87B45RGH
UNII-MNX7R8C5VO
alpha-Hydrazino-alpha-methyl-beta-(3,4-dihydroxyphenyl)propionic acid
alpha-Methyldopahydrazine
carbidopa
carbidopum monohydricum
3
LevodopaapprovedPhase 2, Phase 140259-92-76047
Synonyms:
(-)-(3,4-Dihydroxyphenyl)alanine
(-)-3-(3,4-Dihydroxyphenyl)-L-alanine
(-)-3-(3,4-dihydroxyphenyl)-L-alanine
(-)-Dopa
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid
(−)-3-(3,4-dihydroxyphenyl)-L-alanine
(−)-dopa
.Beta.-(3, 4-Dihydroxyphenyl)alanine
.Beta.-(3,4-Dihydroxyphenyl)-L-alanine
1E83F927-C221-46AA-B90A-81B33C5F3868
2-Amino-3-(3,4-dihydroxyphenyl)propanoic acid
23734-74-9
25525-15-9
3, 4-Dihydroxy-L-phenylalanine
3, 4-Dihydroxyphenylalanine
3,4-DIHYDROXYPHENYLALANINE
3,4-Dihydroxy-L-phenylalanine
3,4-Dihydroxyphenyl-L-alanine
3,4-Dihydroxyphenylalanine
3,4-Dihydroxyphenylalanine (VAN)
3,4-dihydroxy-L-phenylalanine
3,4-dihydroxyphenylalanine
3-(3,4-Dihydroxypheny
3-(3,4-Dihydroxyphenyl)-L-alanine
3-Hydroxy-L-tyrosine
34241-25-3
37830_FLUKA
587-45-1
59-92-7
72572-99-7
72573-00-3
88250-23-1
90638-38-3
AC-11686
AC1L1LOR
AC1Q4U7F
BIDD:GT0158
BPBio1_000059
BSPBio_000053
BSPBio_002354
Bendopa
Bio-0575
Biodopa
Brocadopa
C00355
C9H11NO4
CAS-59-92-7
CCRIS 3766
CHEBI:15765
CHEMBL1009
CID6047
Cerepap
Cidandopa
D 9628
D00059
D0600
D9628
D9628_SIGMA
DAH
DB01235
DOPA
Deadopa
Dihydroxy-L-phenylalanine
Dihydroxyphenylalanine
DivK1c_000452
Dopa
Dopaflex
Dopaidan
Dopal
Dopal-Fher
Dopal-fher
Dopalina
Dopar
Dopar (TN)
Doparkine
Doparl
Dopasol
Dopaston
Dopaston SE
Dopastone
Dopastral
Dopicar
Doprin
EINECS 200-445-2
EU-0100454
Eldopal
Eldopar
Eldopatec
Eurodopa
HMS1568C15
HMS1922J14
HMS2090O08
HMS2093N04
HMS501G14
HSDB 3348
Helfo DOPA
 
Helfo-Dopa
Helfo-dopa
IDI1_000452
IV Levodopa
InChI=1/C9H11NO4/c10-6(9(13)14)3-5-1-2-7(11)8(12)4-5/h1-2,4,6,11-12H,3,10H2,(H,13,14
Insulamina
KBio1_000452
KBio2_000934
KBio2_003502
KBio2_006070
KBioGR_001177
KBioSS_000934
L Dopa
L(-)-Dopa
L-(-)-Dopa
L-(3, 4-Dihydroxyphenyl)-.alpha.-alani
L-(3, 4-Dihydroxyphenyl)alanine
L-(o-Dihydroxyphenyl)alanine
L-.Beta.-(3,4-Dihydroxyphenyl)alanine
L-3,4-Dihydroxyphenylalanine
L-3,4-dihydroxyphenylalanine
L-3-(3,4-Dihydroxyphenyl)-Alanine
L-3-(3,4-Dihydroxyphenyl)alanine
L-3-Hydroxytyrosine
L-4-5-Dihydroxyphenylalanine
L-DOPA
L-DOPA, Parcopa, Atamet, Stalevo, Madopar, Prolopa, Dopar, 3,4-Dihydroxyphenylalanine, Levodopa
L-Dihydroxyphenylalanine
L-Dopa
L-O-Dihydroxyphenylalanine
L-b-(3,4-Dihydroxyphenyl)-a-alanine
L-beta-(3,4-Dihydroxyphenyl)-alpha-alanine
L-beta-(3,4-Dihydroxyphenyl)alanine
L-o-Hydroxytyrosine
LS-255
Laradopa
Larodopa
Ledopa
Levedopa
Levodopa
Levodopa (JP15/USP)
Levodopa (JP15/USP/INN)
Levodopa [USAN:INN:BAN:JAN]
Levodopum
Levodopum [INN-Latin]
Levopa
Lopac-D-9628
Lopac0_000454
MLS000028514
Maipedopa
MolPort-000-856-937
NCGC00015384-01
NCGC00016270-01
NCGC00016270-06
NCGC00093869-04
NINDS_000452
NSC 118381
NSC118381
PDSP1_001541
PDSP2_001525
Parda
Pardopa
Prestwick0_000017
Prestwick1_000017
Prestwick2_000017
Prestwick3_000017
Prestwick_185
Prodopa
Ro 4-6316
S1726_Selleck
SDCCGMLS-0066924.P001
SMR000058312
SPBio_000391
SPBio_001974
SPECTRUM2300205
Sobiodopa
Spectrum2_000496
Spectrum4_000539
Spectrum5_001899
Spectrum_000454
Syndopa
UNII-46627O600J
Veldopa
Weldopa
b-(3,4-Dihydroxyphenyl)-L-alanine
b-(3,4-Dihydroxyphenyl)-a-L-alanine
b-(3,4-Dihydroxyphenyl)alanine
beta-(3,4-Dihydroxyphenyl)-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-alanine
beta-(3,4-Dihydroxyphenyl)alanine
bmse000322
component of Sinemet
l)-L-alanine
nchembio.2007.55-comp26
nchembio.89-comp9
ne
β-(3,4-dihydroxyphenyl)alanine
4Neurotransmitter AgentsPhase 2, Phase 118340
5Dopamine agonistsPhase 2, Phase 1632
6Dopamine AgentsPhase 2, Phase 13836
7Carbidopa, levodopa drug combinationPhase 2, Phase 1124
8Antiparkinson AgentsPhase 2, Phase 11574
9Aromatic Amino Acid Decarboxylase InhibitorsPhase 2, Phase 1153
10Adjuvants, ImmunologicPhase 2, Phase 12554

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Efficacy, Safety and Pharmacokinetic Study of XP21279 and Sinemet® in Parkinson's Disease SubjectsCompletedNCT01171313Phase 2
2An Exploratory Study of XP21279 (With Lodosyn®) and Sinemet® in Parkinson's Disease SubjectsCompletedNCT00914602Phase 1, Phase 2

Search NIH Clinical Center for Xeroderma Pigmentosum, Group C

Genetic Tests for Xeroderma Pigmentosum, Group C

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Genetic tests related to Xeroderma Pigmentosum, Group C:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group C27

Anatomical Context for Xeroderma Pigmentosum, Group C

About this section

MalaCards organs/tissues related to Xeroderma Pigmentosum, Group C:

36
Skin, Lung, Liver

Publications for Xeroderma Pigmentosum, Group C

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Articles related to Xeroderma Pigmentosum, Group C:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3. (28233440)
2017
2
Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and tight spatiotemporal regulation. (26521083)
2016
3
Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein. (25628365)
2015
4
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients. (25651777)
2015
5
SUMOylation of xeroderma pigmentosum group C protein regulates DNA damage recognition during nucleotide excision repair. (26042670)
2015
6
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. (24218596)
2013
7
Identification of a Functional In Vivo p53 Response Element in the Coding Sequence of the Xeroderma Pigmentosum Group C Gene. (23050045)
2012
8
Hydrogen/Deuterium Exchange Reflects Binding of Human Centrin 2 to Ca(2+) and Xeroderma Pigmentosum Group C Peptide: An Example of EX1 Kinetics. (23439742)
2012
9
Dissection of the xeroderma pigmentosum group C protein function by site-directed mutagenesis. (20649465)
2011
10
Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein. (19686765)
2010
11
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. (20054342)
2010
12
p53 dysfunction by xeroderma pigmentosum group C defects enhance lung adenocarcinoma metastasis via increased MMP1 expression. (21056989)
2010
13
Diagnosing xeroderma pigmentosum group C by immunohistochemistry. (19915453)
2010
14
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein. (19609301)
2009
15
The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma. (17882560)
2008
16
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival. (18717677)
2008
17
Correlation of polymorphisms in xeroderma pigmentosum group C to the risk of ovarian carcinoma]. (18785488)
2008
18
Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. (18469853)
2008
19
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. (18987743)
2008
20
Ubiquitylation-independent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair. (17693435)
2007
21
Xeroderma pigmentosum group C in an isolated region of Guatemala. (16990803)
2007
22
Attenuated expression of xeroderma pigmentosum group C is associated with critical events in human bladder cancer carcinogenesis and progression. (17510383)
2007
23
Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. (17897675)
2007
24
Deficient base excision repair of oxidative DNA damage induced by methylene blue plus visible light in xeroderma pigmentosum group C fibroblasts. (17573042)
2007
25
Xeroderma pigmentosum group C gene expression is predominantly regulated by promoter hypermethylation and contributes to p53 mutation in lung cancers. (17325666)
2007
26
The xeroderma pigmentosum group C protein complex and ultraviolet-damaged DNA-binding protein: functional assays for damage recognition factors involved in global genome repair. (16793369)
2006
27
Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. (16533048)
2006
28
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. (15494739)
2005
29
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. (15731165)
2005
30
DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray. (15654957)
2005
31
Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. (15964821)
2005
32
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
33
Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex. (15336624)
2004
34
Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells. (12948486)
2003
35
Xeroderma pigmentosum group C protein possesses a high affinity binding site to human centrin 2 and calmodulin. (12890685)
2003
36
A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein. (12815074)
2003
37
Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase. (12505994)
2003
38
Genetic correction of DNA repair-deficient/cancer-prone xeroderma pigmentosum group C keratinocytes. (12869216)
2003
39
Cell cycle deregulation and xeroderma pigmentosum group C cell transformation. (12485438)
2002
40
A molecular mechanism for DNA damage recognition by the xeroderma pigmentosum group C protein complex. (12509299)
2002
41
Germline and somatic mutations of the INK4a-ARF gene in a xeroderma pigmentosum group C patient. (12485439)
2002
42
p53 and DNA damage-inducible expression of the xeroderma pigmentosum group C gene. (12242345)
2002
43
Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. (11279143)
2001
44
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. (11511294)
2001
45
The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA. (10734143)
2000
46
A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. (11023539)
2000
47
The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts. (10681431)
2000
48
Mutational inactivation of the xeroderma pigmentosum group C gene confers predisposition to 2-acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular cancer in Trp53-/- mice. (10029060)
1999
49
Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. (9734359)
1998
50
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. (9804340)
1998

Variations for Xeroderma Pigmentosum, Group C

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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Group C:

70
id Symbol AA change Variation ID SNP ID
1XPCp.Pro334HisVAR_005846rs74737358
2XPCp.Trp690SerVAR_064039

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group C:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1XPCNM_ 004628.4(XPC): c.2262delC (p.Asn754Lysfs)deletionPathogenicrs786205206GRCh38Chr 3, 14148720: 14148720
2XPCNM_ 004628.4(XPC): c.622-2A> CSNVPathogenicrs201940931GRCh38Chr 3, 14165587: 14165587
3XPCNM_ 004628.4(XPC): c.1677C> A (p.Tyr559Ter)SNVPathogenicrs767569346GRCh37Chr 3, 14199706: 14199706
4XPCNM_ 004628.4(XPC): c.2251-1G> CSNVPathogenicrs754673606GRCh37Chr 3, 14190232: 14190232
5XPCNM_ 004628.4(XPC): c.1001C> A (p.Pro334His)SNVPathogenicrs74737358GRCh37Chr 3, 14200382: 14200382
6XPCNM_ 004628.4(XPC): c.621_ 622ins83 (p.?)insertionPathogenic
7XPCXPC, 3-BP INS, GGT, CODON 580 AND LYS822GLNinsertionPathogenic
8XPCNM_ 004628.4(XPC): c.1292_ 1293delAA (p.Lys431Argfs)deletionPathogenicrs794729654GRCh37Chr 3, 14200090: 14200091
9XPCNM_ 004628.4(XPC): c.2033+2T> GSNVPathogenicrs794729655GRCh37Chr 3, 14197833: 14197833
10XPCNM_ 004628.4(XPC): c.566_ 567delAT (p.Tyr189Serfs)deletionPathogenicrs752088918GRCh37Chr 3, 14208723: 14208724
11XPCNM_ 004628.4(XPC): c.1735C> T (p.Arg579Ter)SNVPathogenicrs121965088GRCh37Chr 3, 14199648: 14199648
12XPCNM_ 004628.4(XPC): c.413-9T> ASNVPathogenicrs794729656GRCh37Chr 3, 14209889: 14209889
13XPCNM_ 004628.4(XPC): c.413-24A> GSNVPathogenicrs794729657GRCh37Chr 3, 14209904: 14209904
14XPCNM_ 004628.4(XPC): c.1643_ 1644delTG (p.Val548Alafs)deletionPathogenicrs754532049GRCh37Chr 3, 14199739: 14199740

Expression for genes affiliated with Xeroderma Pigmentosum, Group C

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Search GEO for disease gene expression data for Xeroderma Pigmentosum, Group C.

Pathways for genes affiliated with Xeroderma Pigmentosum, Group C

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Pathways related to Xeroderma Pigmentosum, Group C according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3DDB2, UVRAG, XPC
29.0ERCC2, ERCC3, XPA
3
Show member pathways
8.9ERCC2, ERCC3, GTF2H1
4
Show member pathways
8.9ERCC2, ERCC3, GTF2H1
5
Show member pathways
8.5DDB2, ERCC2, ERCC3, GTF2H1
6
Show member pathways
8.5DDB2, ERCC2, ERCC3, GTF2H1
78.1ERCC2, ERCC3, GTF2H1, XPA, XPC
87.5DDB2, ERCC2, ERCC3, RAD23B, UVRAG, XPA
9
Show member pathways
6.9ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B, XPA
10
Show member pathways
6.5DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B
11
Show member pathways
6.5DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B
12
Show member pathways
6.5DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group C

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Cellular components related to Xeroderma Pigmentosum, Group C according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1XPC complexGO:00719429.8RAD23B, XPC
2core TFIIH complexGO:00004399.7ERCC2, ERCC3, GTF2H1
3holo TFIIH complexGO:00056759.7ERCC2, ERCC3, GTF2H1
4transcription factor TFIID complexGO:00056699.5ERCC2, ERCC3
5nucleoplasmGO:00056547.3DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B
6nucleusGO:00056347.0DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B

Biological processes related to Xeroderma Pigmentosum, Group C according to GeneCards Suite gene sharing:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1response to auditory stimulusGO:001099610.3XPA, XPC
2hair cell differentiationGO:003531510.2ERCC2, ERCC3
3protein autoubiquitinationGO:005186510.0DDB2, ERCC8
4embryonic organ developmentGO:00485689.9ERCC2, ERCC3, RAD23B
5regulation of mitotic cell cycle phase transitionGO:19019909.9ERCC2, ERCC3, XPC
67-methylguanosine mRNA cappingGO:00063709.7ERCC2, ERCC3, GTF2H1
7nucleotide-excision repair, DNA damage recognitionGO:00007159.6DDB2, RAD23B, XPA, XPC
8termination of RNA polymerase I transcriptionGO:00063639.6ERCC2, ERCC3, GTF2H1
9transcription elongation from RNA polymerase I promoterGO:00063629.6ERCC2, ERCC3, GTF2H1
10transcription elongation from RNA polymerase II promoterGO:00063689.5ERCC2, ERCC3, GTF2H1
11transcription initiation from RNA polymerase I promoterGO:00063619.5ERCC2, ERCC3, GTF2H1
12transcription initiation from RNA polymerase II promoterGO:00063679.4ERCC2, ERCC3, GTF2H1
13UV protectionGO:00096509.3ERCC2, ERCC3, XPA
14UV-damage excision repairGO:00709149.3DDB2, XPA, XPC
15response to oxidative stressGO:00069798.9ERCC2, ERCC3, ERCC8, XPA
16nucleotide-excision repair, DNA incisionGO:00336838.7DDB2, ERCC2, ERCC3, GTF2H1, XPA
17nucleotide-excision repair, DNA incision, 3-to lesionGO:00062958.7DDB2, ERCC2, ERCC3, GTF2H1, XPA
18nucleotide-excision repair, DNA incision, 5-to lesionGO:00062968.7DDB2, ERCC2, ERCC3, GTF2H1, XPA
19nucleotide-excision repair, preincision complex stabilizationGO:00062938.7DDB2, ERCC2, ERCC3, GTF2H1, XPA
20response to UVGO:00094118.5DDB2, ERCC2, ERCC3, ERCC8, XPA
21global genome nucleotide-excision repairGO:00709118.1DDB2, ERCC2, ERCC3, GTF2H1, RAD23B, XPA
22nucleotide-excision repair, DNA duplex unwindingGO:00007178.0DDB2, ERCC2, ERCC3, GTF2H1, RAD23B, XPA
23nucleotide-excision repair, preincision complex assemblyGO:00062948.0DDB2, ERCC2, ERCC3, GTF2H1, RAD23B, XPA
24transcription-coupled nucleotide-excision repairGO:00062837.9ERCC2, ERCC3, ERCC8, GTF2H1, XPA
25nucleotide-excision repairGO:00062897.2DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B
26cellular response to DNA damage stimulusGO:00069746.8DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B
27DNA repairGO:00062816.8DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B

Molecular functions related to Xeroderma Pigmentosum, Group C according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent DNA helicase activityGO:000400310.4ERCC2, ERCC3
2damaged DNA bindingGO:00036849.3DDB2, ERCC3, RAD23B, XPA, XPC
3RNA polymerase II carboxy-terminal domain kinase activityGO:00083538.9ERCC2, ERCC3, GTF2H1
4DNA-dependent ATPase activityGO:00080948.9ERCC2, ERCC3, ERCC8, GTF2H1
5protein bindingGO:00055156.4DDB2, ERCC2, ERCC3, ERCC8, GTF2H1, RAD23B

Sources for Xeroderma Pigmentosum, Group C

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet