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This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also.
Gene Name: | ornithine carbamoyltransferase |
Synonyms: | OTC, OCTD, Ornithine carbamoyltransferase, Ornithine transcarbamylase, OTCase |
Target Sequences: | NM_000531 NP_000522.3 P00480 |
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