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OTC

Gene

ornithine transcarbamylase

HGNCHGNC:8512EnsemblENSG00000036473NCBI Gene5009
Locus: gene with protein productLocation: Xp11.4

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asOTCase · OTCD · OTC1
View full nomenclature history (5)
Alias symbolsOTCase, OTCD, OTC1
Previous namesornithine carbamoyltransferase
Alias namesornithine transcarbamylase deficiency

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic Diseases, Inborn
Granulomatous Disease, Chronic
Uncombable hair syndrome

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-03-27.
Open TargetsGene–disease associations from the Open Targets Platform.