ERCC6

ERCC excision repair 6, chromatin remodeling factor

3 disorders 2 causative 1 untyped 10q11.23 gene with protein product

HGNC:3438 Monarch NCBI Gene 2074 ENSG00000225830 UniProt P0DP91 UniProt Q03468 OMIM 609413

Previous symbols: CKN2. Aliases: CSB, RAD26, ARMD5.

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 B scoped to subtype: Cockayne syndrome type B
COFS Syndrome	causative	mechanism: NER Gene Biallelic Loss-of-Function subtype: COFS1 scoped to subtype: COFS1
UV-Sensitive Syndrome	untyped	subtype: UVSS1 variant: ERCC6 c.229C>T (p.Arg77X) dataset: geo:GSE111989; geo:GSE168861

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 spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506	AR	Definitive 2022-08-18	no dismech entry

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.