ERCC8

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

Description

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Tissue specificity

Low tissue specificity

Subcell location

Nuclear speckles

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

5 (60866454 - 60945073)

Ensembl ID

ENSG00000049167  (ver. 103.38)

Orthologs

Mouse Ercc8: ENSMUSG00000021694

UniProt

Q13216

neXtProt

NX_Q13216

Human splice variants
Mouse splice variants

Protein structure