OTC wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human OTC wild-type allele is located in the vicinity of Xp21.1 and is approximately 69 kb in length. This allele, which encodes ornithine carbamoyltransferase, mitochondrial protein, plays a role in the mediation of the ornithine cycle. Missense, nonsense, and frameshift mutations in the gene are associated with ornithine carbamoyltransferase deficiency.

**Synonyms:** - MGC129967 - MGC129968 - MGC138856 - OCTD - Ornithine Carbamoyltransferase wt Allele