ERCC8 (gene)

ERCC8
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4A11
Identifiers
Aliases	ERCC8, CKN1, CSA, UVSS2, excision repair cross-complementation group 8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit
External IDs	OMIM: 609412 MGI: 1919241 HomoloGene: 62 GeneCards: ERCC8
Gene location (Human)
Chr.	Chromosome 5 (human)
End	60,945,073 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	108,331,898 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; monocyte; ; Achilles tendon; ; stromal cell of endometrium; ; islet of Langerhans; ; rectum; ; left lobe of thyroid gland; ; tibialis anterior muscle; ; endothelial cell; ; right lobe of thyroid gland;
	Top expressed in
	spermatocyte; ; spermatid; ; seminiferous tubule; ; endocardial cushion; ; intestinal villus; ; neural tube; ; ganglionic eminence; ; medial ganglionic eminence; ; yolk sac; ; medullary collecting duct;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ATP-dependent activity, acting on DNA; DNA helicase activity; ubiquitin-protein transferase activity; protein binding; protein-containing complex binding;
Cellular component	nucleoplasm; nucleotide-excision repair complex; nuclear matrix; Cul4A-RING E3 ubiquitin ligase complex; nucleus; Cul4-RING E3 ubiquitin ligase complex; cytoplasm; perikaryon; protein-containing complex;
Biological process	response to X-ray; protein polyubiquitination; positive regulation of DNA repair; proteasome-mediated ubiquitin-dependent protein catabolic process; protein ubiquitination; protein autoubiquitination; transcription-coupled nucleotide-excision repair; response to oxidative stress; response to UV; cellular response to DNA damage stimulus; nucleotide-excision repair; DNA repair; post-translational protein modification; response to auditory stimulus; response to organic cyclic compound; DNA duplex unwinding;
	Sources:Amigo / QuickGO
Orthologs
	1161
	71991
	ENSG00000049167
	ENSMUSG00000021694
	Q13216
	Q8CFD5
	NM_001290285; NM_000082; NM_001007233; NM_001007234
	NM_028042; NM_001362403
	NP_000073; NP_001007234; NP_001007235; NP_001277214
	NP_082318; NP_001349332
	Wikidata
View/Edit Human	View/Edit Mouse

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.

CS arises from germline mutations in either of two genes CSA(ERCC8) or CSB(ERCC6). CSA mutations generally give rise to a more moderate form of CS than CSB mutations. Mutations in the CSA gene account for about 20% of CS cases.

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