ERCC8 (gene)

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ERCC8
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ERCC8, CKN1, CSA, UVSS2, excision repair cross-complementation group 8
External IDs MGI: 1919241 HomoloGene: 62 GeneCards: 1161
RNA expression pattern
PBB GE ERCC8 205162 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001290285
NM_000082
NM_001007233
NM_001007234

NM_028042

RefSeq (protein)

NP_000073.1
NP_001007235.1

NP_082318.2

Location (UCSC) Chr 5: 60.87 – 60.95 Mb Chr 13: 108.16 – 108.2 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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 JP, Khaw MC, Saijo M, Kodo N, Matsuda T, Hoeijmakers JH, 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]