OTCase Antibody – Mouse Monoclonal

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, Jul 2008]

OTC: Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD). 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. Belongs to the ATCase/OTCase family.

Protein type: Amino Acid Metabolism - arginine and proline; Mitochondrial; Transferase; EC 2.1.3.3

Chromosomal Location of Human Ortholog: Xp21.1

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane

Molecular Function: amino acid binding; ornithine carbamoyltransferase activity; phospholipid binding; phosphate binding

Biological Process: response to drug; citrulline biosynthetic process; response to zinc ion; midgut development; arginine biosynthetic process via ornithine; liver development; ornithine catabolic process; response to insulin stimulus; urea cycle

Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To