Health / Medical Topics |
OTC wt Allele
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. (NCI Thesaurus)
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