NP_032795.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
39,765 Da
NCBI Official Full Name
ornithine carbamoyltransferase, mitochondrial
NCBI Official Synonym Full Names
ornithine transcarbamylase
NCBI Protein Information
ornithine carbamoyltransferase, mitochondrial
UniProt Protein Name
Ornithine carbamoyltransferase, mitochondrial
UniProt Synonym Protein Names
Ornithine transcarbamylase; OTCase
UniProt Synonym Gene Names
UniProt Entry Name
OTC_MOUSE
UniProt Comments for OTC
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.
Protein type: EC 2.1.3.3; Amino Acid Metabolism - arginine and proline; Transferase; Mitochondrial
Cellular Component: mitochondrion; mitochondrial inner membrane; cytoplasm
Molecular Function: transferase activity; amino acid binding; ornithine carbamoyltransferase activity; carboxyl- or carbamoyltransferase activity; phospholipid binding; phosphate binding
Biological Process: amino acid metabolic process; citrulline biosynthetic process; arginine biosynthetic process; ornithine metabolic process; arginine biosynthetic process via ornithine; amino acid biosynthetic process; ornithine catabolic process; anion homeostasis; urea cycle
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Products associated with OTC sirna
Pathways associated with OTC sirna
Diseases associated with OTC sirna
Organs/Tissues associated with OTC sirna
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