ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

2 disorders 1 causative 1 untyped 5q12.1 gene with protein product

HGNC:3439 Monarch NCBI Gene 1161 ENSG00000049167 UniProt Q13216 OMIM 609412

Previous symbols: CKN1. Aliases: CSA.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Cockayne Syndrome	causative germline	mechanism: Defective Transcription-Coupled Nucleotide Excision Repair subtype: Cockayne syndrome type A scoped to subtype: Cockayne syndrome type A
UV-Sensitive Syndrome	untyped	subtype: UVSS2 variant: ERCC8 c.1083G>T (p.Trp361Cys) dataset: geo:GSE132840

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Cockayne syndrome type 1 MONDO:0019569	AR	Definitive 2022-08-12	Cockayne Syndrome causative

Mechanism modules · computed from kb/

nucleotide_excision_repair_deficiency via Cockayne Syndrome named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.