ERCC8 (gene)

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Excision repair cross-complementing rodent repair deficiency, complementation group 8
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ERCC8 ; CKN1; CSA; UVSS2
External IDs OMIM609412 MGI1919241 HomoloGene62 GeneCards: ERCC8 Gene
RNA expression pattern
PBB GE ERCC8 205162 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1161 71991
Ensembl ENSG00000049167 ENSMUSG00000021694
UniProt Q13216 Q8CFD5
RefSeq (mRNA) NM_000082 NM_028042
RefSeq (protein) NP_000073 NP_082318
Location (UCSC) Chr 5:
60.17 – 60.24 Mb
Chr 13:
108.16 – 108.2 Mb
PubMed search [1] [2]

DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.[1][2]

This gene encodes a WD repeat protein, which interacts with the Cockayne syndrome type B (CSB) and p44 proteins, the latter being a subunit of the RNA polymerase II transcription factor II H. Mutations in this gene have been identified in patients with the hereditary disease Cockayne syndrome (CS). The CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.[2]

Interactions[edit]

ERCC8 (gene) has been shown to interact with XAB2.[3]

References[edit]

  1. ^ Itoh T, Shiomi T, Shiomi N, Harada Y, Wakasugi M, Matsunaga T, Nikaido O, Friedberg EC, Yamaizumi M (April 1996). "Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A". Mutat Res 362 (2): 167–74. doi:10.1016/0921-8777(95)00046-1. PMID 8596535. 
  2. ^ a b "Entrez Gene: ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8". 
  3. ^ Nakatsu, Y; Asahina H, Citterio E, Rademakers S, Vermeulen W, Kamiuchi S, Yeo J P, Khaw M C, Saijo M, Kodo N, Matsuda T, Hoeijmakers J H, Tanaka K (November 2000). "XAB2, a novel tetratricopeptide repeat protein involved in transcription-coupled DNA repair and transcription". J. Biol. Chem. (UNITED STATES) 275 (45): 34931–7. doi:10.1074/jbc.M004936200. ISSN 0021-9258. PMID 10944529. 

Further reading[edit]

External links[edit]