Gene Symbol | OTC |
Entrez Gene ID | 5009 |
Full Name | ornithine carbamoyltransferase |
Synonyms | OCTD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Ornithine transcarbamylase deficiency, 311250 (3) |