OTC (W-17) Antibody (항체): sc-102051

OTC Background Information
OTC (ornithine carbamoyltransferase), also known as OTCase, is a 354 amino acid protein that belongs to the ATCase/OTCase family of proteins. Expressed in liver and intestinal mucosa, OTC localizes to the mitochondrial matrix and exists as a homotrimer. Specifically, OTC plays a vital role in the urea cycle, catalyzing the second step in this pathway: the formation of L-citrulline from L-orthinine and carbamoyl phosphate. In humans, the urea cycle is an important pathway to detoxification of ammonia. Mutations in the gene encoding OTC are associated with the X-linked disorder OTCD (ornithine carbamoyltransferase deficiency). OTCD is a disorder of the urea cycle characterized by hyperammonemia. In males, OTCD is fatal, whereas females express variable symptoms. In addition, the OTC gene localizes near a region of the X chromosome that is associated with Duchenne muscular dystrophy, suggesting a possible role in that disease as well.