CS
MCID: CCK001
MIFTS: 58

Cockayne Syndrome (CS) malady

Ear category

Summaries for Cockayne Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. this syndrome also includes failure to thrive in the neonate, microcephaly, and impaired nervous system development. other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.  cockayne syndrome type 1 (type a) is sometimes called “classic” cockayne syndrome and is diagnosed during early childhood. cockayne syndrome type 2 (type b) is sometimes referred to as the “connatal” type. this type is a more severe form in which growth and developmental abnormalities are present at birth. the third type, cockayne syndrome type 3 (type c) is a milder form of the disorder. cockayne syndrome is caused by mutations ineither the ercc8 (csa) or ercc6 (csb) genes and is inherited in an autosomal recessive pattern. individuals with type 1 or 2 usually do not survive past childhood, whereas those with type 3 live into adulthood. last updated: 5/31/2011

MalaCards: Cockayne Syndrome, also known as dwarfism-retinal atrophy-deafness syndrome, is related to xeroderma pigmentosum and xeroderma pigmentosum, group d. An important gene associated with Cockayne Syndrome is ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8), and among its related pathways are Chromatin Regulation / Acetylation and RNA Polymerase I Chain Elongation. The compounds thymine glycol and 8-hydroxyadenine have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and lung, and related mouse phenotypes are tumorigenesis and integument.

Disease Ontology:8 An autosomal recessive disease that is caused by rare mutations in two dna excision repair proteins, ercc-8 and ercc-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.

Genetics Home Reference:21 Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans.

Wikipedia:64 Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal... more...

Description from OMIM:47 133540,216400

GeneReviews summary for cockayne

Aliases & Classifications for Cockayne Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 35MeSH, 47OMIM, 57SNOMED-CT
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear


Aliases & Descriptions:

cockayne syndrome 8 64 19 43 21 10 45 61
dwarfism-retinal atrophy-deafness syndrome 64 43 21
progeria-like syndrome 64 43 21
progeroid nanism 64 43 21
opitz trigonocephaly syndrome 43 61
cockayne's syndrome 43 20
cs 64 21
trigonocephaly c syndrome 43
neill-dingwall syndrome 64
trigonocephaly syndrome 43
trigonocephaly 45
c syndrome 43


External Ids:

Disease Ontology8 DOID:2962
NCIt40 C9460
SNOMED-CT57 21086008, 205832003
MeSH35 D003057

Related Diseases for Cockayne Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the cockayne syndrome type ii family:

cockayne syndrome cockayne syndrome type i
cockayne syndrome type iii

Diseases related to Cockayne Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 194)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.3OGG1, HELLS, XPA, GTF2H4, GTF2H2, ERCC2
2xeroderma pigmentosum, group d30.5ERCC3, ERCC2
3progeria30.3HELLS, PGBD3
4fanconi's anemia30.2ERCC4, HELLS, ERCC2
5mental retardation30.0HELLS, ERCC2
6bloom syndrome30.0DNAH8, HELLS
7ataxia telangiectasia30.0HELLS, XPA
8n syndrome10.9
9cockayne syndrome type i10.7
10xeroderma pigmentosum, group g10.7
11xeroderma pigmentosum, group g/cockayne syndrome10.7
12xeroderma pigmentosum, group c10.6
13cockayne syndrome type ii10.6
14cockayne syndrome type iii10.5
15xeroderma pigmentosum, group f10.5
16char syndrome10.4
17xeroderma pigmentosum, group b10.4
18trigonocephaly 110.3
19xeroderma pigmentosum, group a10.3
20fanconi syndrome10.3
21adult syndrome10.3
22cerebro-oculo-facio-skeletal syndrome10.3
23synostosis10.2
24say meyer syndrome10.2
25trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet10.2
26trigonocephaly 210.2
27cousin syndrome10.2
28trigonocephaly ptosis mental retardation10.2
29cushing's syndrome10.2
30kennedy's disease10.2
31critical illness polyneuropathy10.2
32guanidinoacetate methyltransferase deficiency10.2
33amyotrophic lateral sclerosis10.2
34spinal-bulbar muscular atrophy10.2
35mitochondrial cardiomyopathy10.2
36insulin resistance10.2
37epidermolysis bullosa simplex, localized10.1
38radiation induced cancer10.1
39ercc8-related cockayne syndrome10.1
40ercc6-related cockayne syndrome10.1
41ataxia10.1
42xeroderma pigmentosum, type f/cockayne syndrome10.1
43cerebrooculofacioskeletal syndrome 410.1
44cerebrooculofacioskeletal syndrome 210.1
45lip disease10.1
46null syndrome10.1
47polysyndactyly trigonocephaly agenesis of corpus callosum10.1
48trigonocephaly - broad thumbs10.1
49calciphylaxis10.1
50cerebritis10.1

Graphical network of the top 20 diseases related to Cockayne Syndrome:



Diseases related to cockayne syndrome

Clinical Features for Cockayne Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

133540,216400

Drugs & Therapeutics for Cockayne Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Cockayne Syndrome

Drug clinical trials:

Search ClinicalTrials for Cockayne Syndrome

Search NIH Clinical Center for Cockayne Syndrome

Search CenterWatch for Cockayne Syndrome

Genetic Tests for Cockayne Syndrome

Sources:
20GeneTests
See all sources

Genetic tests related to Cockayne Syndrome:

id Genetic test Affiliating Genes
1 Cockayne Syndrome20 ERCC8

Anatomical Context for Cockayne Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Cockayne Syndrome:

33
Skin, Brain, Lung, Adrenal gland, T cells, B cells, Fetal brain, Fetal lung

Animal Models for Cockayne Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Cockayne Syndrome

Sources:
51PubMed
See all sources

Articles related to Cockayne Syndrome:

(show top 50)    (show all 345)
idTitleAuthorsYear
1
From laboratory tests to functional characterisation of Cockayne syndrome. (23567079)
2013
2
Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress. (23733932)
2013
3
Dendritic spine density is altered in a mouse model of Cockayne syndrome. (23039087)
2013
4
Overproduction, purification, crystallization and preliminary X-ray diffraction analysis of Cockayne syndrome protein A in complex with DNA damage-binding protein 1. (22232169)
2012
5
Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation. (22743267)
2012
6
Downregulation of Cockayne syndrome B protein reduces human 8-oxoguanine DNA glycosylase-1 expression and repair of UV radiation-induced 8-oxo-7,8-dihydro-2'-deoxyguanine. (21668583)
2011
7
A ubiquitin-binding domain in cockayne syndrome B required for transcription-coupled nucleotide excision repair. (20541997)
2010
8
GPi-pallidal stimulation to treat generalized dystonia in Cockayne syndrome. (20131400)
2010
9
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. (19760648)
2009
10
Blepharokeratoconjunctivitis in Cockayne syndrome. (19496505)
2009
11
The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging. (18541289)
2008
12
Cockayne syndrome. (19893654)
2008
13
Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a. (17707230)
2007
14
Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates. (17567611)
2007
15
Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling. (16772382)
2006
16
Cockayne syndrome in adults: review with clinical and pathologic study of a new case. (17092472)
2006
17
Cockayne syndrome with recurrent acute tubulointerstitial nephritis. (17040291)
2006
18
Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience. (16941719)
2006
19
Cockayne syndrome B protein regulates the transcriptional program after UV irradiation. (16601682)
2006
20
Poly(ADP-ribosyl)ation accelerates DNA repair in a pathway dependent on Cockayne syndrome B protein. (12954769)
2003
21
UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice. (12509261)
2002
22
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. (11228268)
2001
23
Studies on p53 and Bax protein expression in Cockayne syndrome cells after UV irradiation and interferon-beta treatment. (11494312)
2001
24
Rad26, the yeast homolog of the cockayne syndrome B gene product, counteracts inhibition of DNA repair due to RNA polymerase II transcription. (9880486)
1999
25
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. (9565609)
1998
26
Enhancement of XPG mRNA expression by human interferon-beta in Cockayne syndrome cells. (9678065)
1998
27
Complementation of transformed fibroblasts from patients with combined xeroderma pigmentosum-Cockayne syndrome. (9716445)
1998
28
Cockayne syndrome without typical clinical manifestations including neurologic abnormalities. (9777763)
1998
29
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. (9150142)
1997
30
Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. (9113985)
1997
31
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids. (9338586)
1997
32
Cockayne syndrome: defective repair of transcription? (9250659)
1997
33
UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. (8876179)
1996
34
Recovery from ultraviolet tight-induced depression of ribosomal RNA synthesis in normal human, xeroderma pigmentosum and Cockayne syndrome cells. (8840721)
1996
35
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. (8823375)
1996
36
Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the diseases? (8984734)
1996
37
Cockayne syndrome type III with high intelligence. (8835332)
1995
38
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. (7825573)
1995
39
Essential role of polyamines in restoration of DNA synthesis after UV radiation and expression of UV resistance in Cockayne syndrome cells. (7802627)
1994
40
Xeroderma pigmentosum, Cockayne's syndrome, helicases, and DNA repair: what's the relationship? (1458537)
1992
41
Insusceptibility of Cockayne syndrome-derived lymphocytes to plasminogen activator-like protease induction by ultraviolet rays and its abolition by interferon. (1705660)
1991
42
Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)). (1951442)
1991
43
Radiation-induced chromatid aberrations in Cockayne syndrome and xeroderma pigmentosum group C fibroblasts in relation to cancer predisposition. (1756475)
1991
44
Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility. (3348214)
1988
45
Rare syndromes. I. Cockayne syndrome: a review of the 129 cases so far reported in the literature. (3334173)
1987
46
Cockayne syndrome with early onset of manifestations. (7137233)
1982
47
Decrease of thymic hormone serum level in Cockayne syndrome. (7058086)
1982
48
Genetic complementation groups in cockayne syndrome. (7280930)
1981
49
Cockayne syndrome: an atypical case. (7192807)
1980
50
Host-cell reactivation of UV-irradiated adenovirus in Cockayne syndrome. (514294)
1979

Genetic Variations for Cockayne Syndrome

Expression for genes affiliated with Cockayne Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cockayne Syndrome

Search GEO for disease gene expression data for Cockayne Syndrome.

Pathways for genes affiliated with Cockayne Syndrome

Sources:
4Cell Signaling Technology, 54Reactome, 30KEGG, 52QIAGEN, 12EMD Millipore, 38NCBI BioSystems Database
See all sources

Pathways related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4ERCC2, ERCC3, HMGN1, HELLS
2
Hide members
10.4GTF2H4, GTF2H2, ERCC2, ERCC3
3
Hide members
10.4ERCC3, ERCC1, DDB1, ERCC2, XPC
4
Hide members
10.4POLR2L, ERCC3, ERCC2, GTF2H4, GTF2H2
5
Hide members
10.4GTF2H2, GTF2H4, ERCC2, ERCC3, POLR2L
6
Hide members
10.4POLR2L, ERCC2, GTF2H2, GTF2H4, ERCC3
7
Hide members
10.4ERCC3, GTF2H4, GTF2H2, ERCC2, POLR2L
8
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
Hide members
10.4GTF2H2, ERCC2, ERCC3, POLR2L, GTF2H4
910.4ERCC3, ERCC2, GTF2H2, GTF2H4, POLR2L
10
Transcription P53 signaling pathway
Hide members
10.4ERCC2, ERCC3, XPC, XPA, GTF2H2, GTF2H4
11
Hide members
10.3POLR2L, GTF2H2, ERCC2, ERCC3, GTF2H4, XAB2
12
Hide members
10.3GTF2H2, XAB2, ERCC2, ERCC5, ERCC3, ERCC1
13
Hide members
10.3ERCC4, ERCC1, ERCC8, ERCC3, ERCC5, ERCC2
14
Hide members
10.3XPA, XPC, DDB1, ERCC6, GTF2H2, GTF2H4
15
Hide members
10.2OGG1, XPA, XPC, DDB1, POLR2L, XAB2

Compounds for genes affiliated with Cockayne Syndrome

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1thymine glycol4510.8ERCC5, ERCC6, OGG1, POLR2L
28-hydroxyadenine4510.8OGG1, HELLS, ERCC6
3phosphodiester4510.8ERCC3, ERCC5, POLR2L, OGG1
48-hydroxyguanine4510.8OGG1, HELLS, ERCC6
58-oxoguanine4510.8HELLS, OGG1, POLR2L, ERCC6
6psoralen4510.7XPA, ERCC1, ERCC4
7benzo(a)pyrene4510.7ERCC1, HELLS, XPC, XPA
8melphalan45 1111.7ERCC2, ERCC1, ERCC3, ERCC4
9thymidylate4510.7HELLS, POLR2L, ERCC1, ERCC4, ERCC2
10amp-pnp45 2911.7DNAH8, HELLS, GTF2H4
11thymine45 2411.7XPC, HELLS, OGG1
12adenine45 11 2412.7POLR2L, DNAH8, OGG1, HELLS
13cpds4510.6XPA, ERCC3
14oligonucleotide4510.6ERCC5, OGG1, XPA, HELLS, XPC, POLR2L
15cisplatin45 50 60 1113.6DDB1, XPA, XPC, POLR2L, ERCC4, ERCC1
16glycerol45 11 2412.6HELLS, POLR2L, DNAH8, ERCC1
17atp45 2911.6GTF2H4, OGG1, GTF2H2, ERCC5, ERCC3, ERCC6
18oxaliplatin45 50 1112.6ERCC2, XPA, ERCC1
19ecteinascidin 7434510.6ERCC2, ERCC5
202-acetylaminofluorene4510.6XPC, XPA
21zinc45 2411.6GTF2H2, POLR2L, DDB1, XPA, OGG1, HELLS
22platinum compounds5010.5ERCC2, ERCC1
23doxorubicin45 50 1112.4HELLS, ERCC1, DNAH8, POLR2L
24cysteine4510.3XPA, DNAH8, POLR2L, DDB1, OGG1, HELLS
25mitomycin c4510.3XPA, ERCC1, ERCC4
26atpgammas4510.1DNAH8, HELLS

GO Terms for genes affiliated with Cockayne Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Cockayne Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair complexGO:00010910.6ERCC8, ERCC1, ERCC4
2holo TFIIH complexGO:00567510.6ERCC3, GTF2H2, ERCC2, ERCC5, GTF2H4
3SSL2-core TFIIH complexGO:00044110.5ERCC2, ERCC3
4transcription factor TFIID complexGO:00566910.4ERCC4, ERCC1
5core TFIIH complexGO:00043910.4GTF2H2, GTF2H4
6nucleoplasmGO:00565410.4XAB2, ERCC8, ERCC4, ERCC6, ERCC5, POLR2L
7Cul4A-RING ubiquitin ligase complexGO:03146410.3ERCC8, DDB1
8nucleusGO:00563410.3XPC, ERCC8, ERCC2, ERCC5, ERCC3, POLR2L
9nuclear chromosome, telomeric regionGO:00078410.1ERCC1, ERCC4

Biological processes related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:00965010.8ERCC4, ERCC2, ERCC5, ERCC1, ERCC3
2regulation of mitotic cell cycle phase transitionGO:190199010.8ERCC2, DDB1, ERCC3, XPC
3nucleotide-excision repair, DNA incision, 3-to lesionGO:00629510.7ERCC4, ERCC1, ERCC5
4response to UVGO:00941110.7ERCC4, ERCC6, XPA, ERCC3, ERCC5, GTF2H2
5response to oxidative stressGO:00697910.7XPA, ERCC1, ERCC8, ERCC3, OGG1, ERCC6
6transcription elongation from RNA polymerase I promoterGO:00636210.7GTF2H4, ERCC2, GTF2H2, ERCC3
77-methylguanosine mRNA cappingGO:00637010.7POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
8positive regulation of viral transcriptionGO:05043410.7GTF2H4, GTF2H2, ERCC2, ERCC3, POLR2L
9termination of RNA polymerase I transcriptionGO:00636310.7GTF2H4, GTF2H2, ERCC2, ERCC3
10nucleotide-excision repair, DNA incisionGO:03368310.7ERCC4, ERCC3, ERCC2
11transcription elongation from RNA polymerase II promoterGO:00636810.7POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
12transcription initiation from RNA polymerase I promoterGO:00636110.7GTF2H4, GTF2H2, ERCC2, ERCC3
13response to UV-BGO:01022410.7XPC, HMGN1, ERCC6
14transcription from RNA polymerase I promoterGO:00636010.7GTF2H4, GTF2H2, ERCC3, ERCC2
15nucleotide-excision repair, DNA damage removalGO:00071810.7GTF2H2, GTF2H4, XPA, XPC, DDB1, ERCC4
16multicellular organism growthGO:03526410.7XPA, ERCC2, ERCC1, ERCC6
17response to X-rayGO:01016510.6ERCC8, ERCC1, ERCC6
18transcription-coupled nucleotide-excision repairGO:00628310.6POLR2L, XAB2, HMGN1, ERCC6, ERCC4, ERCC1
19transcription from RNA polymerase II promoterGO:00636610.6ERCC6, POLR2L, ERCC3, ERCC2, GTF2H4, GTF2H2
20transcription initiation from RNA polymerase II promoterGO:00636710.6ERCC3, GTF2H2, POLR2L, ERCC2, GTF2H4
21pyrimidine dimer repair by nucleotide-excision repairGO:00072010.6ERCC1, HMGN1
22nucleotide-excision repairGO:00628910.6OGG1, GTF2H4, GTF2H2, ERCC2, XPA, XPC
23DNA repairGO:00628110.6GTF2H4, GTF2H2, ERCC2, ERCC5, OGG1, XPA
24nucleotide-excision repair, DNA incision, 5-to lesionGO:00629610.6ERCC1, ERCC4
25viral processGO:01603210.5POLR2L, GTF2H4, GTF2H2, ERCC2, ERCC3
26negative regulation of telomere maintenanceGO:03220510.5ERCC4, ERCC1
27hair cell differentiationGO:03531510.4ERCC2, ERCC3
28gene expressionGO:01046710.4GTF2H4, ERCC2, ERCC3, POLR2L, GTF2H2
29positive regulation of DNA-dependent transcription, elongationGO:03278610.3ERCC6, HMGN1
30response to UV-CGO:01022510.1HMGN1, ERCC5

Molecular functions related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:00809410.7GTF2H4, ERCC2, ERCC3, ERCC8, ERCC6, GTF2H2
2RNA polymerase II carboxy-terminal domain kinase activityGO:00835310.7ERCC3, GTF2H4, ERCC2, GTF2H2
3protein N-terminus bindingGO:04748510.7GTF2H2, ERCC2, ERCC5, ERCC3, ERCC6, ERCC4
4protein C-terminus bindingGO:00802210.7ERCC6, ERCC2, ERCC3, ERCC1, ERCC4
5damaged DNA bindingGO:00368410.6XPC, OGG1, XPA, DDB1, ERCC4, ERCC1
6TFIID-class transcription factor bindingGO:00109410.6ERCC4, ERCC1
7single-stranded DNA bindingGO:00369710.6ERCC5, ERCC1, ERCC4, XPC
8ATP-dependent DNA helicase activityGO:00400310.6ERCC2, GTF2H4, ERCC3
9bubble DNA bindingGO:00040510.6ERCC5, XPC
10protein kinase activityGO:00467210.5ERCC2, GTF2H4, GTF2H2, ERCC3
11single-stranded DNA endodeoxyribonuclease activityGO:00001410.5ERCC1
12DNA helicase activityGO:00367810.5ERCC8, ERCC6
13structure-specific DNA bindingGO:04356610.4ERCC4, ERCC1
14protein bindingGO:00551510.4ERCC8, ERCC1, ERCC4, ERCC6, XAB2, DDB1
15endodeoxyribonuclease activityGO:00452010.3ERCC5, ERCC4
16DNA bindingGO:00367710.0HMGN1, POLR2L, ERCC2, ERCC3, ERCC6, DDB1

Products for genes affiliated with Cockayne Syndrome

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Sources for Cockayne Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet