ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit

2 disorders 1 causative 1 no genetic record 2q14.3 gene with protein product

HGNC:3435 Monarch NCBI Gene 2071 ENSG00000163161 UniProt P19447 OMIM 133510

Aliases: XPB, BTF2, RAD25, Ssl2.

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
Trichothiodystrophy	causative germline	mechanism: TFIIH Complex Instability in Photosensitive TTD; Unprocessed R-Loop Accumulation in ERCC2/ERCC3-Related TTD subtype: Photosensitive TTD; TTD2 (ERCC3) scoped to subtype: Photosensitive TTD
Xeroderma Pigmentosum	no genetic record	mechanism: Impaired nucleotide-excision repair subtype: XP-B

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
xeroderma pigmentosum group B MONDO:0012531	AR	Definitive 2019-04-19	Xeroderma Pigmentosum no genetic record

Mechanism modules · computed from kb/

nucleotide_excision_repair_deficiency via Xeroderma Pigmentosum named in the module itself

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