OTC (Ornithine Carbamoyltransferase) is a Protein Coding gene. The OTC gene, located on Xp11.4, is conserved in dog, cow, mouse, and rat, etc. This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. OTC deficiency is the most common urea cycle disorder and is inherited in an X-linked semi-dominant trait, and the OTC gene maps to Xp21. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. Diseases associated with OTC include Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To and Disorder Of Ornithine Metabolism. Among its related pathways are Arginine biosynthesis and Viral mRNA Translation.