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
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:
rs1131691783 in
ERCC8;ERCC8-AS1 gene and
Cockayne Syndrome, Type I
PMID 26846091 2016 Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
PMID 16865293 2006 Cockayne syndrome type A: novel mutations in eight typical patients.
PMID 29057985 2017 Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.