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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. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - arginine and proline; EC; Mitochondrial; Transferase
Chromosomal Location of Human Ortholog: Xp11.4
Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion
Molecular Function: amino acid binding; ornithine carbamoyltransferase activity; phosphate binding; phospholipid binding
Biological Process: anion homeostasis; arginine biosynthetic process via ornithine; citrulline biosynthetic process; liver development; midgut development; ornithine catabolic process; response to drug; response to insulin stimulus; response to zinc ion; urea cycle
Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Reference #:  P00480 (UniProtKB)
Alt. Names/Synonyms: MGC129967; MGC129968; MGC138856; OCTD; ornithine carbamoyltransferase; Ornithine carbamoyltransferase, mitochondrial; Ornithine transcarbamylase; OTC; OTCase
Gene Symbols: OTC
Molecular weight: 39,935 Da
Basal Isoelectric point: 8.75  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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