ERCC8

Also known as CKN1, CSA, UVSS2, excision repair cross-complementation group 8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit

DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.

Gene data

ERCC8

Name: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Type: protein-coding
Aliases: CKN1, CSA, UVSS2

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].

via MyGene.info

Gene · Ensembl

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Symbol: ERCC8
Biotype: Protein coding
Organism: Homo sapiens
Location: 5:60,866,454-60,945,078
Strand: Reverse (−)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 62
exact match: identifiers.org/ncbigene/1161
genomic end: 60240900
genomic start: 60866454
cytogenetic location: 5q12.1

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Function
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DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.

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). CS is an accelerated aging disorder characterized by photosensitivity, impaired development and multi-system progressive degeneration. 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.