OTC wt Allele - CISMeF

Preferred Label : OTC wt Allele;

NCIt synonyms : MGC138856; MGC129968; MGC129967; Ornithine Carbamoyltransferase wt Allele; OCTD;

NCIt 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.;

GenBank Accession Number : K02100;

Details

Origin ID

C75883;

UMLS CUI

C2698642;

OMIM relation
- Ornithine carbamoyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Arginine and Proline Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Protein Metabolism Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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