Browse All / Genes / RPE65

RPE65

retinoid isomerohydrolase RPE65
2 disorders 1 untyped 1 causative 1p31.3 gene with protein product
HGNC:10294MonarchNCBI Gene 6121ENSG00000116745UniProt Q16518OMIM 180069

Previous symbols: RP20. Aliases: LCA2, rd12, BCO3.

Normal function · from ai-gene-review (Q16518, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

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.

DisorderRelationshipWhere the gene appears
RPE65-Related Retinopathy causative germline
mechanism: RPE65 Isomerohydrolase Deficiency
subtype: LCA2; RPE65-related dominant retinopathy
Inherited Retinal Dystrophy untyped
Causative
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 diseaseMOIClassificationdismech entry
RPE65-related recessive retinopathy MONDO:0100368 AR Definitive
2022-05-24
RPE65-related dominant retinopathy MONDO:0100452 AD Strong
2022-02-07
Mechanism modules · computed from kb/

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