| Entrez gene ID | | 5009 |
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| Official gene symbol | | OTC |
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| Full name | | ornithine carbamoyltransferase |
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| Aliases | | ,MGC129967,MGC129968,MGC138856,OCTD, |
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| Gene 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] |
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| Location | | Chromosome: X Locus: Xp21.1 |
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| Gene position | | 38211736 - 38280703 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 68968 bp |
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| Gene sequence |
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| OMIM ID | | 300461 |
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