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 Transcarbamylase) is a Protein Coding gene. Diseases associated with OTC include Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To and Disorder Of Ornithine Metabolism. Among its related pathways are Carbon metabolism and Arginine biosynthesis. Gene Ontology (GO) annotations related to this gene include phospholipid binding and phosphate ion binding. An important paralog of this gene is CAD.
UniProtKB/Swiss-Prot Summary for OTC Gene
Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline (PubMed:6372096, PubMed:8112735, PubMed:2556444). The urea cycle ensures the detoxification of ammonia by converting it to urea for excretion (PubMed:2556444).