ERCC8
Sign in to saveAlso known as CKN1, CSA, UVSS2, excision repair cross-complementation group 8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Gen der Spezies Homo sapiens
Gene data
ERCC8- Name
- ERCC excision repair 8, CSA ubiquitin ligase complex subunit
- Type
- protein-coding
- Position
- 60,866,454–60,945,078 (−)
- Aliases
- CKN1, CSA, UVSS2
- Ensembl
- ENSG00000049167
- RefSeq RNA
- NM_000082.4, NM_001007233.3, NM_001007234.3, NM_001290285.2
- RefSeq protein
- NP_000073.1, NP_001007234.1, NP_001007235.1, NP_001277214.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 62
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1161
- genomic end
- 60240900
- genomic start
- 60866454
- chromosome
- human chromosome 5
- cytogenetic location
- 5q12.1
via Wikidata · CC0