Aliases for OTC Gene
External Ids for OTC Gene
Previous GeneCards Identifiers for OTC Gene
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]
GeneCards Summary for OTC Gene
OTC (Ornithine Carbamoyltransferase) is a Protein Coding gene. Diseases associated with OTC include Ornithine Transcarbamylase Deficiency and Orotic Aciduria. Among its related pathways are Carbon metabolism and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include phospholipid binding and phosphate ion binding.