OTC

ornithine transcarbamylase

3 disorders 2 untyped 1 no genetic record Xp11.4 gene with protein product

HGNC:8512 Monarch NCBI Gene 5009 ENSG00000036473 UniProt P00480 OMIM 300461

Aliases: OTCase, OTCD, OTC1.

Normal function · from ai-gene-review (P00480, 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.

Disorder	Relationship	Where the gene appears
Ornithine Carbamoyltransferase Deficiency	untyped Pathogenic Variants	mechanism: Ornithine carbamoyltransferase molecular function deficiency
Urea Cycle Disorder	untyped	mechanism: Deficient urea cycle enzyme function
Fibrolamellar Hepatocellular Carcinoma	no genetic record	mechanism: Ornithine Transcarbamylase Suppression

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
ornithine carbamoyltransferase deficiency MONDO:0010703	XL	Definitive 2019-10-29	Ornithine Carbamoyltransferase Deficiency untyped

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