CS
MCID: CCK001
MIFTS: 61

Cockayne Syndrome (CS) malady

Ear diseases category

Summaries for Cockayne Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 progeria. 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 eye, brain and bone, 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:63 Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal... more...

Description from OMIM:46 133540,216400

GeneReviews summary for cockayne

Aliases & Classifications for Cockayne Syndrome

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 20GeneTests, 39NCIt, 34MeSH, 46OMIM, 56SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

cockayne syndrome 8 63 19 42 21 10 44 60
dwarfism-retinal atrophy-deafness syndrome 63 42 21
progeria-like syndrome 63 42 21
progeroid nanism 63 42 21
opitz trigonocephaly syndrome 42 60
cockayne's syndrome 42 20
cs 63 21
trigonocephaly c syndrome 42
neill-dingwall syndrome 63
trigonocephaly syndrome 42
trigonocephaly 44
c syndrome 42


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Disease Ontology8 DOID:2962
NCIt39 C9460
SNOMED-CT56 21086008, 205832003
MeSH34 D003057

Related Diseases for Cockayne Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Cockayne Syndrome Type Ii family:

cockayne syndrome Cockayne Syndrome Type I
Cockayne Syndrome Type Iii Ercc8-Related Cockayne Syndrome
Ercc6-Related Cockayne Syndrome

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

(show top 50)    (show all 199)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.3OGG1, HELLS, XPA, XPC, DDB1, POLR2L
2progeria30.3HELLS, PGBD3
3hepatitis29.9HELLS
4cataract29.9DNAH8
5lung cancer29.9OGG1, ERCC6, ERCC1, ERCC2
6fanconi's anemia29.9ERCC2, ERCC4, HELLS
7xeroderma pigmentosum, group d29.9ERCC2, ERCC3
8ataxia telangiectasia29.9HELLS, XPA
9leukemia29.7OGG1, HELLS, POLR2L, DNAH8, ERCC3, ERCC2
10cockayne syndrome type i10.6
11cockayne syndrome type ii10.6
12cockayne syndrome type iii10.5
13trigonocephaly 110.3
14adult syndrome10.3
15synostosis10.2
16say meyer syndrome10.2
17trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet10.2
18trigonocephaly 210.2
19neuropathy10.2
20cerebro-oculo-facio-skeletal syndrome10.2
21cushing's syndrome10.1
22kennedy's disease10.1
23critical illness polyneuropathy10.1
24guanidinoacetate methyltransferase deficiency10.1
25amyotrophic lateral sclerosis10.1
26endocarditis10.1
27malaria10.1
28myopathy10.1
29neuromuscular disease10.1
30poliomyelitis10.1
31spinal-bulbar muscular atrophy10.1
32mitochondrial cardiomyopathy10.1
33insulin resistance10.1
34cerebritis10.1
35hypertension10.1
36ischemia10.1
37peripheral neuropathy10.1
38epidermolysis bullosa simplex, localized10.1
39ercc8-related cockayne syndrome10.1
40ercc6-related cockayne syndrome10.1
41xeroderma pigmentosum, group g/cockayne syndrome10.1
42xeroderma pigmentosum, group f10.1
43xeroderma pigmentosum, type f/cockayne syndrome10.1
44cerebrooculofacioskeletal syndrome 410.1
45cerebrooculofacioskeletal syndrome 210.1
46polysyndactyly trigonocephaly agenesis of corpus callosum10.1
47trigonocephaly - broad thumbs10.1
48calciphylaxis10.1
49chagas disease10.1
50osteoarthritis10.1

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



Diseases related to cockayne syndrome

Clinical Features for Cockayne Syndrome

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46OMIM
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Clinical features from OMIM:

133540,216400

Drugs & Therapeutics for Cockayne Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cockayne Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Cockayne Syndrome

Search CenterWatch for Cockayne Syndrome

Genetic Tests for Cockayne Syndrome

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20GeneTests
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Genetic tests related to Cockayne Syndrome:

id Genetic test Affiliating Genes
1 Cockayne Syndrome20 ERCC8

Anatomical Context for Cockayne Syndrome

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32MalaCards
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MalaCards organs/tissues related to Cockayne Syndrome:

32
Eye, Brain, Bone, B cells, Skin, Lung, Testes, T cells, Fetal brain

Animal Models for Cockayne Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cockayne Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.6HMGN1
2MP:001077110.5XPC, HMGN1, ERCC6, ERCC1, ERCC8, ERCC3
3MP:000537510.4ERCC2, ERCC1, ERCC6, XPA, HELLS
4MP:001076810.4OGG1, HELLS, XPA, XPC, DDB1, XAB2
5MP:000537810.3HELLS, XPA, XPC, ERCC6, ERCC4, ERCC1
6MP:000538410.3OGG1, HELLS, XPA, XPC, DDB1, HMGN1
7MP:000537010.3OGG1, XPA, ERCC6, ERCC4, ERCC1, ERCC5
8MP:000539710.1OGG1, HELLS, XPA, ERCC6, ERCC1, ERCC8

Publications for Cockayne Syndrome

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Sources:
50PubMed
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Articles related to Cockayne Syndrome:

(show top 50)    (show all 331)
idTitleAuthorsYear
1
Cockayne syndrome b maintains neural precursor function. (23245699)
2013
2
Repair of oxidatively generated DNA damage in Cockayne syndrome. (23518175)
2013
3
Cockayne syndrome pathogenesis: lessons from mouse models. (23591128)
2013
4
Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. (23267107)
2013
5
Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks. (23562425)
2013
6
Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a murine model of Cockayne syndrome. (22393014)
2012
7
Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy. (22473955)
2012
8
A Rare Case of Cockayne Syndrome-MRI Features. (23285467)
2012
9
Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein. (21852235)
2011
10
Blepharokeratoconjunctivitis in Cockayne syndrome. (19496505)
2009
11
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. (18446857)
2008
12
Response of motor complications in Cockayne syndrome to carbidopa-levodopa. (18695064)
2008
13
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. (17603927)
2007
14
Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates. (17567611)
2007
15
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. (15626539)
2005
16
A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene. (15211661)
2004
17
Poly(ADP-ribosyl)ation accelerates DNA repair in a pathway dependent on Cockayne syndrome B protein. (12954769)
2003
18
Phenotypic consequences of mutations in the conserved motifs of the putative helicase domain of the human Cockayne syndrome group B gene. (11867210)
2002
19
A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage. (12447686)
2002
20
Cockayne syndrome. (12583487)
2002
21
Cockayne syndrome in a family. (11890228)
2002
22
Studies on p53 and Bax protein expression in Cockayne syndrome cells after UV irradiation and interferon-beta treatment. (11494312)
2001
23
Manitoba aboriginal kindred with original cerebro-oculo-facio- skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. (10739753)
2000
24
Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes. (10882116)
2000
25
UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome. (10698956)
2000
26
Role of the ATPase domain of the Cockayne syndrome group B protein in UV induced apoptosis. (10698517)
2000
27
Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells. (10536158)
1999
28
Cataract in early onset and classic Cockayne syndrome. (9457750)
1997
29
Cockayne syndrome: defective repair of transcription? (9250659)
1997
30
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. (8818951)
1996
31
Somatic cell mutation frequency at the HPRT, T-cell antigen receptor and glycophorin A loci in Cockayne syndrome. (7596357)
1995
32
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
33
RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6. (7957102)
1994
34
Cockayne syndrome in two adult siblings. (8294592)
1994
35
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. (8317483)
1993
36
Comparison of MRI white matter changes with neuropsychologic impairment in Cockayne syndrome. (1388420)
1992
37
Cockayne syndrome with delayed recovery of RNA synthesis after ultraviolet irradiation but normal ultraviolet survival. (2432457)
1987
38
Transient expression of a plasmid gene, a tool to study DNA repair in human cells: defect of DNA repair in Cockayne syndrome; one thymine cyclobutane dimer is sufficient to block transcription. (3956512)
1986
39
Distinctive skeletal dysplasia in Cockayne syndrome. (3703607)
1986
40
Establishment of Cockayne syndrome fibroblast cell line belonging to complementation group B by SV40 transformation. (2989592)
1985
41
Host cell reactivation of ultraviolet light irradiated adenovirus 5 in fibroblasts from patients with Cockayne syndrome: a study with six Japanese cases. (6481688)
1984
42
Roles of poly(ADP-ribose) synthesis in repair and replication in normal human, Cockayne syndrome, and xeroderma pigmentosum fibroblasts after UV irradiation. (6418714)
1983
43
Normal reconstruction of DNA supercoiling and chromatin structure in cockayne syndrome cells during repair of damage from ultraviolet light. (7102674)
1982
44
Decrease of thymic hormone serum level in Cockayne syndrome. (7058086)
1982
45
Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome. (7318848)
1981
46
Cockayne syndrome: report of two siblings and review of literature in Japan. (553450)
1979
47
The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology. (514720)
1979
48
DNA repair in Cockayne syndrome. (747187)
1978
49
Excision repair in ataxia telangiectasia, Fanconi's anemia, Cockayne syndrome, and Bloom's syndrome after treatment with ultraviolet radiation and N-acetoxy-2-acetylaminofluorene. (737187)
1978
50
Cockayne syndrome: clinical study of two patients and neuropathologic findings in one. (837626)
1977

Genetic Variations for Cockayne Syndrome

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Expression for genes affiliated with Cockayne Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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4Cell Signaling Technology, 53Reactome, 12EMD Millipore, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4HELLS, HMGN1, ERCC3, ERCC2
2
Hide members
10.4GTF2H4, GTF2H2, ERCC2, ERCC3
3
Hide members
10.4XPC, DDB1, ERCC1, ERCC3, ERCC2
4
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
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10.4POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
5
Hide members
10.4POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
6
Hide members
10.4POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
7
Hide members
10.4POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
810.4GTF2H4, GTF2H2, ERCC2, ERCC3, POLR2L
9
Hide members
10.4GTF2H4, GTF2H2, ERCC2, ERCC3, POLR2L
10
Transcription P53 signaling pathway
Hide members
10.4XPA, XPC, ERCC3, ERCC2, GTF2H2, GTF2H4
11
Hide members
10.3POLR2L, XAB2, ERCC3, ERCC2, GTF2H2, GTF2H4
12
Hide members
10.3OGG1, XPA, XPC, XAB2, ERCC6, ERCC4
13
Hide members
10.3ERCC6, ERCC4, ERCC1, ERCC8, ERCC3, ERCC5
14
Hide members
10.3XPA, XPC, DDB1, ERCC6, ERCC4, ERCC1
15
Hide members
10.2XAB2, ERCC6, ERCC4, ERCC1, ERCC8, ERCC3

Compounds for genes affiliated with Cockayne Syndrome

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Cockayne Syndrome according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1thymine glycol4410.8OGG1, POLR2L, ERCC6, ERCC5
28-hydroxyadenine4410.8OGG1, HELLS, ERCC6
3phosphodiester4410.8OGG1, POLR2L, ERCC3, ERCC5
48-hydroxyguanine4410.8ERCC6, HELLS, OGG1
58-oxoguanine4410.8ERCC6, POLR2L, HELLS, OGG1
6psoralen4410.7ERCC1, ERCC4, XPA
7benzo(a)pyrene4410.7HELLS, XPA, XPC, ERCC1
8melphalan44 1111.7ERCC4, ERCC1, ERCC3, ERCC2
9thymidylate4410.7HELLS, POLR2L, ERCC4, ERCC1, ERCC2
10amp-pnp44 2811.7GTF2H4, DNAH8, HELLS
11thymine44 2411.7XPC, HELLS, OGG1
12adenine44 11 2412.7OGG1, HELLS, POLR2L, DNAH8
13cpds4410.6ERCC3, XPA
14oligonucleotide4410.6OGG1, HELLS, XPA, XPC, POLR2L, ERCC1
15cisplatin44 49 59 1113.6GTF2H2, HELLS, XPA, XPC, DDB1, POLR2L
16glycerol44 11 2412.6HELLS, POLR2L, DNAH8, ERCC1
17atp44 2811.6XPC, XPA, HELLS, OGG1, POLR2L, DNAH8
18oxaliplatin44 49 1112.6ERCC2, ERCC1, XPA
19ecteinascidin 7434410.6ERCC5, ERCC2
20platinum compounds4910.6ERCC2, ERCC1
21zinc44 2411.6OGG1, HELLS, XPA, DDB1, POLR2L, GTF2H2
222-acetylaminofluorene4410.5XPC, XPA
23doxorubicin44 49 1112.4ERCC1, DNAH8, POLR2L, HELLS
24cysteine4410.3OGG1, HELLS, XPA, DDB1, POLR2L, DNAH8
25mitomycin c4410.3ERCC1, ERCC4, XPA
26atpgammas4410.1HELLS, DNAH8

GO Terms for genes affiliated with Cockayne Syndrome

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16Gene Ontology
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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, ERCC5, ERCC2, GTF2H2, GTF2H4
3SSL2-core TFIIH complexGO:00044110.5ERCC3, ERCC2
4transcription factor TFIID complexGO:00566910.4ERCC1, ERCC4
5core TFIIH complexGO:00043910.4GTF2H4, GTF2H2
6nucleoplasmGO:00565410.4GTF2H4, OGG1, XPA, XPC, DDB1, POLR2L
7Cul4A-RING ubiquitin ligase complexGO:03146410.3ERCC8, DDB1
8nucleusGO:00563410.3POLR2L, DDB1, XPC, XPA, HELLS, OGG1
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, ERCC1, ERCC3, ERCC5, ERCC2
2regulation of mitotic cell cycle phase transitionGO:190199010.8ERCC2, ERCC3, DDB1, XPC
3nucleotide-excision repair, DNA incision, 3-to lesionGO:00629510.7ERCC4, ERCC1, ERCC5
4response to UVGO:00941110.7XPA, ERCC6, ERCC4, ERCC8, ERCC3, ERCC5
5response to oxidative stressGO:00697910.7OGG1, XPA, ERCC6, ERCC1, ERCC8, ERCC3
6transcription elongation from RNA polymerase I promoterGO:00636210.7ERCC3, ERCC2, GTF2H2, GTF2H4
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:01022410.7ERCC6, HMGN1, XPC
14transcription from RNA polymerase I promoterGO:00636010.7ERCC3, ERCC2, GTF2H2, GTF2H4
15nucleotide-excision repair, DNA damage removalGO:00071810.7XPA, XPC, DDB1, ERCC4, ERCC1, ERCC3
16multicellular organism growthGO:03526410.7ERCC2, ERCC1, ERCC6, XPA
17response to X-rayGO:01016510.6ERCC8, ERCC1, ERCC6
18transcription-coupled nucleotide-excision repairGO:00628310.6ERCC4, ERCC1, ERCC8, ERCC3, ERCC5, ERCC2
19transcription from RNA polymerase II promoterGO:00636610.6POLR2L, ERCC6, ERCC3, ERCC2, GTF2H2, GTF2H4
20transcription initiation from RNA polymerase II promoterGO:00636710.6POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
21pyrimidine dimer repair by nucleotide-excision repairGO:00072010.6ERCC1, HMGN1
22nucleotide-excision repairGO:00628910.6OGG1, XPA, XPC, DDB1, POLR2L, XAB2
23DNA repairGO:00628110.6GTF2H4, DDB1, POLR2L, XAB2, ERCC6, ERCC4
24nucleotide-excision repair, DNA incision, 5-to lesionGO:00629610.6ERCC1, ERCC4
25viral processGO:01603210.5POLR2L, ERCC3, ERCC2, GTF2H2, GTF2H4
26negative regulation of telomere maintenanceGO:03220510.5ERCC1, ERCC4
27hair cell differentiationGO:03531510.4ERCC3, ERCC2
28gene expressionGO:01046710.4ERCC3, ERCC2, GTF2H2, GTF2H4, POLR2L
29positive regulation of DNA-dependent transcription, elongationGO:03278610.3ERCC6, HMGN1
30response to UV-CGO:01022510.1ERCC5, HMGN1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:00809410.7ERCC6, ERCC8, ERCC3, ERCC2, GTF2H2, GTF2H4
2RNA polymerase II carboxy-terminal domain kinase activityGO:00835310.7GTF2H4, GTF2H2, ERCC2, ERCC3
3protein N-terminus bindingGO:04748510.7ERCC6, ERCC4, ERCC3, ERCC5, ERCC2, GTF2H2
4protein C-terminus bindingGO:00802210.7ERCC6, ERCC4, ERCC1, ERCC3, ERCC2
5damaged DNA bindingGO:00368410.6ERCC3, OGG1, XPA, XPC, DDB1, ERCC4
6TFIID-class transcription factor bindingGO:00109410.6ERCC1, ERCC4
7single-stranded DNA bindingGO:00369710.6XPC, ERCC4, ERCC1, ERCC5
8ATP-dependent DNA helicase activityGO:00400310.6GTF2H4, ERCC2, ERCC3
9single-stranded DNA endodeoxyribonuclease activityGO:00001410.6ERCC1
10protein kinase activityGO:00467210.5ERCC3, ERCC2, GTF2H2, GTF2H4
11bubble DNA bindingGO:00040510.5ERCC5, XPC
12DNA helicase activityGO:00367810.5ERCC8, ERCC6
13structure-specific DNA bindingGO:04356610.4ERCC4, ERCC1
14protein bindingGO:00551510.4OGG1, HELLS, XPA, XPC, DDB1, XAB2
15endodeoxyribonuclease activityGO:00452010.3ERCC4, ERCC5
16DNA bindingGO:00367710.0HELLS, DDB1, POLR2L, HMGN1, ERCC6, ERCC3

Products for genes affiliated with Cockayne Syndrome

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Sources for Cockayne Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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