功能： catalytic activity:Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline.,disease: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.,online information:OTCase website,pathway:Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1.,similarity:Belongs to the ATCase/OTCase family.,subunit:Homotrimer.,tissue specificity:Mainly in liver and intestinal mucosa.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion matrix .
组织表达： Mainly expressed in liver and intestinal mucosa.
功能： catalytic activity:Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline.,disease: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.,online information:OTCase website,pathway:Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1.,similarity:Belongs to the ATCase/OTCase family.,subunit:Homotrimer.,tissue specificity:Mainly in liver and intestinal mucosa.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion matrix .
组织表达： Mainly expressed in liver and intestinal mucosa.
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