OTC

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.

Ornithine Carbamoyltransferase

Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline (PubMed:6372096, PubMed:8112735, PubMed:2556444).
The urea cycle ensures the detoxification of ammonia by converting it to urea for excretion (PubMed:2556444).

Ammonium homeostasisManual Assertion Based On ExperimentIMP:BHF-UCL
Anion homeostasisIEA:Ensembl
Arginine biosynthetic process via ornithineManual Assertion Based On ExperimentIBA:GO_Central
Citrulline biosynthetic processManual Assertion Based On ExperimentIDA:BHF-UCL
Liver developmentIEA:Ensembl
Midgut developmentIEA:Ensembl
Ornithine catabolic processManual Assertion Based On ExperimentIDA:BHF-UCL
Response to biotinIEA:Ensembl
Response to insulinIEA:Ensembl
Response to xenobiotic stimulusIEA:Ensembl
Response to zinc ionIEA:Ensembl
Urea cycleManual Assertion Based On ExperimentIDA:BHF-UCL

Mitochondrion matrix

Ornithine carbamoyltransferase deficiency (OTCD):
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.

Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.