MCID: XRD019
MIFTS: 53

Xeroderma Pigmentosum, Group C malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases, Neuronal diseases, Eye diseases, Ear diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group C

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Sources:
49OMIM, 11diseasecard, 24GTR, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Xeroderma Pigmentosum, Group C:

Name: Xeroderma Pigmentosum, Group C 49 11 24
Xeroderma Pigmentosum Complementation Group C 51 67
Xpc 51 67
Xeroderma Pigmentosum, Complementation Group C 65
Xeroderma Pigmentosum, Type 3 45
 
Xeroderma Pigmentosum Iii 67
Xp Group C 67
Xpcc 67
Xp-C 67
Xp3 67

Characteristics:

Orphanet epidemiological data:

51
xeroderma pigmentosum complementation group c:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

61
xeroderma pigmentosum, group c:
Onset and clinical course: childhood onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 278720
Orphanet51 276255
ICD10 via Orphanet28 Q82.1
UMLS via Orphanet66 C2752147
MedGen34 C2752147
MeSH36 D014983
UMLS65 C2752147

Summaries for Xeroderma Pigmentosum, Group C

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OMIM:49 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 complementation group c, is related to xpc-related xeroderma pigmentosum and xeroderma pigmentosum, group a, and has symptoms including cutaneous melanoma, squamous cell carcinoma of the skin and dermal atrophy. An important gene associated with Xeroderma Pigmentosum, Group C is XPC (Xeroderma Pigmentosum, Complementation Group C), and among its related pathways are Transcription_P53 signaling pathway and Proteolysis_Putative ubiquitin pathway. Affiliated tissues include skin, kidney and lung, and related mouse phenotypes are tumorigenesis and cellular.

UniProtKB/Swiss-Prot:67 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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Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Group C:



Diseases related to xeroderma pigmentosum, group c

Symptoms for Xeroderma Pigmentosum, Group C

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Symptoms by clinical synopsis from OMIM:

278720

Clinical features from OMIM:

278720

HPO human phenotypes related to Xeroderma Pigmentosum, Group C:

(show all 14)
id Description Frequency HPO Source Accession
1 cutaneous melanoma HP:0012056
2 squamous cell carcinoma of the skin HP:0006739
3 dermal atrophy HP:0004334
4 defective dna repair after ultraviolet radiation damage HP:0003079
5 basal cell carcinoma HP:0002671
6 poikiloderma HP:0001029
7 hypopigmentation of the skin HP:0001010
8 telangiectasia HP:0001009
9 cutaneous photosensitivity HP:0000992
10 ectropion HP:0000656
11 entropion HP:0000621
12 photophobia HP:0000613
13 conjunctivitis HP:0000509
14 keratitis HP:0000491

UMLS symptoms related to Xeroderma Pigmentosum, Group C:


photophobia

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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LevodopaapprovedPhase 2, Phase 136359-92-76047
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
2
CarbidopaapprovedPhase 2, Phase 115928860-95-934359, 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-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-Dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic 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)
(AlphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
(S)-(-)-Carbidopa hydrate
(S)-(-)-carbidopa
(S)-(-)-carbidopa hydrate
(S)-(−)-carbidopa hydrate
(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
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
Carbidopa (anhydrous)
Carbidopa Anhydrous
Carbidopa Monohydrate
Carbidopa [USAN:INN:BAN]
Carbidopa anhydrous
Carbidopa hydrate
Carbidopa monohydrate
Carbidopa, (S)-Isomer
 
Carbidopa, Entacapone, & Levodopa
Carbidopa-1-wasser
Carbidopum
Carbidopum [INN-Latin]
Carbidopum monohydricum
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-alpha-(3,4-Dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
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
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
carbidopa hydrate
carbidopum monohydricum
3
DopamineapprovedPhase 2, Phase 1308462-31-7, 51-61-6681
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 Hcl
Dopamine 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
4Immunologic FactorsPhase 2, Phase 118483
5Antiparkinson AgentsPhase 2, Phase 11312
6Neurotransmitter AgentsPhase 2, Phase 114795
7Dopamine AgonistsPhase 2, Phase 1544
8Dopamine AgentsPhase 2, Phase 13084
9Carbidopa, levodopa drug combinationPhase 2, Phase 1104
10Adjuvants, ImmunologicPhase 2, Phase 11783
11Aromatic Amino Acid Decarboxylase InhibitorsPhase 2, Phase 1116

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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Anatomical Context for Xeroderma Pigmentosum, Group C

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

33
Skin, Kidney, Lung, Prostate, Neutrophil, Pituitary, B cells

Animal Models for Xeroderma Pigmentosum, Group C or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group C:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8DDB2, ERCC3, ERCC8, MMP1, TP73, XPC
2MP:00053847.1CETN2, DDB2, ERCC3, ERCC8, RAD23A, RAD23B

Publications for Xeroderma Pigmentosum, Group C

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Articles related to Xeroderma Pigmentosum, Group C:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
SUMOylation of xeroderma pigmentosum group C protein regulates DNA damage recognition during nucleotide excision repair. (26042670)
2015
2
Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein. (25628365)
2015
3
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. (24218596)
2013
4
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
5
Identification of a Functional In Vivo p53 Response Element in the Coding Sequence of the Xeroderma Pigmentosum Group C Gene. (23050045)
2012
6
Dissection of the xeroderma pigmentosum group C protein function by site-directed mutagenesis. (20649465)
2011
7
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. (20054342)
2010
8
Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein. (19686765)
2010
9
Diagnosing xeroderma pigmentosum group C by immunohistochemistry. (19915453)
2010
10
p53 dysfunction by xeroderma pigmentosum group C defects enhance lung adenocarcinoma metastasis via increased MMP1 expression. (21056989)
2010
11
Correlation of polymorphisms in xeroderma pigmentosum group C to the risk of ovarian carcinoma]. (18785488)
2008
12
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival. (18717677)
2008
13
Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. (18469853)
2008
14
The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma. (17882560)
2008
15
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. (18987743)
2008
16
Attenuated expression of xeroderma pigmentosum group C is associated with critical events in human bladder cancer carcinogenesis and progression. (17510383)
2007
17
Ubiquitylation-independent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair. (17693435)
2007
18
Xeroderma pigmentosum group C gene expression is predominantly regulated by promoter hypermethylation and contributes to p53 mutation in lung cancers. (17325666)
2007
19
Xeroderma pigmentosum group C in an isolated region of Guatemala. (16990803)
2007
20
Deficient base excision repair of oxidative DNA damage induced by methylene blue plus visible light in xeroderma pigmentosum group C fibroblasts. (17573042)
2007
21
Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. (17897675)
2007
22
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
23
Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. (16533048)
2006
24
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. (15731165)
2005
25
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
26
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. (15494739)
2005
27
DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray. (15654957)
2005
28
Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. (15964821)
2005
29
Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex. (15336624)
2004
30
A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein. (12815074)
2003
31
Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase. (12505994)
2003
32
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
33
Cell cycle deregulation and xeroderma pigmentosum group C cell transformation. (12485438)
2002
34
p53 and DNA damage-inducible expression of the xeroderma pigmentosum group C gene. (12242345)
2002
35
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. (11511294)
2001
36
Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. (11279143)
2001
37
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
38
A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. (11023539)
2000
39
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
40
Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. (9734359)
1998
41
Characterization of the properties of a human homologue of Escherichia coli RecQ from xeroderma pigmentosum group C and from HeLa cells. (8790942)
1996
42
Purification and cloning of a nucleotide excision repair complex involving the Xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. (8168482)
1994
43
Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25. (8088800)
1994
44
Repair in ribosomal RNA genes is deficient in xeroderma pigmentosum group C and in Cockayne's syndrome cells. (7512688)
1994
45
Characterization of molecular defects in Xeroderma pigmentosum group C. (8298653)
1993
46
DNA strand bias in the repair of the p53 gene in normal human and xeroderma pigmentosum group C fibroblasts. (8221675)
1993
47
Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. (1522891)
1992
48
Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. (1461286)
1992
49
Radiation-induced chromatid aberrations in Cockayne syndrome and xeroderma pigmentosum group C fibroblasts in relation to cancer predisposition. (1756475)
1991
50
An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors. (3029584)
1987

Variations for Xeroderma Pigmentosum, Group C

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

67
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> Csingle nucleotide variantPathogenicrs201940931GRCh38Chr 3, 14165587: 14165587
3XPCNM_004628.4(XPC): c.1677C> A (p.Tyr559Ter)single nucleotide variantPathogenicrs767569346GRCh37Chr 3, 14199706: 14199706
4XPCNM_004628.4(XPC): c.2251-1G> Csingle nucleotide variantPathogenicrs754673606GRCh37Chr 3, 14190232: 14190232
5XPCNM_004628.4(XPC): c.1001C> A (p.Pro334His)single nucleotide variantPathogenicrs74737358GRCh37Chr 3, 14200382: 14200382
6XPCXPC, 83-BP INS, NT462insertionPathogenic
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> Gsingle nucleotide variantPathogenicrs794729655GRCh37Chr 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)single nucleotide variantPathogenicrs121965088GRCh37Chr 3, 14199648: 14199648
12XPCNM_004628.4(XPC): c.413-9T> Asingle nucleotide variantPathogenicrs794729656GRCh37Chr 3, 14209889: 14209889
13XPCNM_004628.4(XPC): c.413-24A> Gsingle nucleotide variantPathogenicrs794729657GRCh37Chr 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:

idSuper pathwaysScoreTop Affiliating Genes
19.3ERCC3, GTF2H1, TDG, XPC
29.1RBX1, UBE2D1
3
Show member pathways
8.9DDB2, ERCC5, UBE2D1, UVRAG, XPC
4
Show member pathways
8.8ERCC3, ERCC5, ERCC8, GTF2H1, RAD23B, XPC
58.8RBX1, TP73, UBE2D1
6
Show member pathways
8.3RAD23A, RAD23B, RBX1, UBE2D1
7
Show member pathways
6.5CETN2, DDB2, ERCC3, ERCC5, ERCC8, GTF2H1
8
Show member pathways
6.5CETN2, DDB2, ERCC3, ERCC5, ERCC8, GTF2H1
9
Show member pathways
6.3CETN2, DDB2, ERCC3, ERCC5, ERCC8, GTF2H1

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
1Cul4A-RING E3 ubiquitin ligase complexGO:00314649.4ERCC8, RBX1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:000965010.5ERCC3, ERCC5
2transcription from RNA polymerase I promoterGO:000636010.4ERCC3, GTF2H1
3transcription initiation from RNA polymerase I promoterGO:000636110.3ERCC3, GTF2H1
4termination of RNA polymerase I transcriptionGO:000636310.2ERCC3, GTF2H1
5UV-damage excision repairGO:007091410.2DDB2, XPC
6nucleotide-excision repairGO:000628910.1DDB2, ERCC8
7regulation of cytokinesisGO:003246510.0CETN2, UVRAG
8nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.0DDB2, ERCC3
9nucleotide-excision repair, preincision complex stabilizationGO:000629310.0ERCC3, ERCC5, GTF2H1
10nucleotide-excision repair, DNA damage recognitionGO:00007159.4RAD23B, RBX1, XPC
11transcription-coupled nucleotide-excision repairGO:00062839.2ERCC3, ERCC8, GTF2H1, RBX1
12nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.2ERCC3, ERCC5, GTF2H1, RBX1
13cellular response to DNA damage stimulusGO:00069748.8ERCC8, RAD23A, RAD23B, TP73, XPC
14global genome nucleotide-excision repairGO:00709118.8DDB2, ERCC3, GTF2H1, RBX1
15nucleotide-excision repair, DNA duplex unwindingGO:00007178.7CETN2, DDB2, ERCC3, GTF2H1
16nucleotide-excision repair, DNA incisionGO:00336838.6DDB2, ERCC5, GTF2H1, RBX1
17nucleotide-excision repair, preincision complex assemblyGO:00062948.5DDB2, ERCC3, GTF2H1, RAD23B, RBX1, XPC
18viral processGO:00160328.5ERCC3, GTF2H1, MMP1, RBX1, TP73
19DNA repairGO:00062817.6DDB2, ERCC3, ERCC5, ERCC8, GTF2H1, RBX1

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

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:00036979.1ERCC5, RAD23A, RAD23B, XPC

Sources for Xeroderma Pigmentosum, Group C

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet