Proteins > Ornithine carbamoyltransferase, mitochondrial (OTC)
Ornithine carbamoyltransferase, mitochondrial (OTC)
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UniProt Number:
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P00480 |
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Alternate Names:
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Ornithine transcarbamylase |
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Structure and Function:
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Ornithine transcarbamoylase (OTC) (also called ornithine carbamoyltransferase) is an enzyme that catalyzes the reaction between carbamoyl phosphate (CP) and ornithine (Orn) to form citrulline (Cit) and phosphate (Pi). In mammals OTC is located in the mitochondria and is part of the urea cycle. |
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Disease Associations:
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Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]. OTCD is an X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. |
Protein
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