Ornithine transcarbamylase, mitochondrial

Definition:

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

References:

[1]. T Matsuura, et al. Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes. Hum Genet. 1994 Feb;93(2):129-34. [Content Brief]

[2]. A L Horwich, et al. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science. 1984 Jun 8;224(4653):1068-74. [Content Brief]

[3]. J T Lee, et al. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. J Clin Invest. 1989 Dec;84(6):1762-6. [Content Brief]

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