Gene: ERCC8-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ERCC8

Alternate names for this Gene: CKN1|CSA|UVSS2

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q12.1

Description of this Gene: ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Type of Gene: protein-coding

rs143367518 in ERCC8-AS1;ERCC8 gene and Cockayne Syndrome, Type I PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 16865293 2006 Cockayne syndrome type A: novel mutations in eight typical patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.