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

rs121434325 in ERCC8 gene and Cockayne Syndrome, Type I PMID 14661080 2004 CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 15744458 2005 Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.

PMID 14661080 2004 We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation.

PMID 22829088 2012 [Cockayne syndrome: a new mutation in the ERCC8 gene].

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

PMID 27004399 2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

rs185572712 in ERCC8 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs281875221 in ERCC8 gene and UV-SENSITIVE SYNDROME 2 PMID 19329487 2009 A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.