Molecular weight (DA)
38kD
Immunogen
Synthesized peptide derived from human OTC AA range: 275-325
Specificity
This antibody detects endogenous levels of OTC at Human/Mouse/Rat
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.60% sodium azide.
Dilution rate
WB 1:500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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],
Function
catalytic activity:Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline.,disease:Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]. 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.,online information:OTCase
Other name
Ornithine carbamoyltransferase, mitochondrial (EC 2.1.3.3) (Ornithine transcarbamylase) (OTCase)
Fields
>>Arginine biosynthesis;>>Metabolic pathways;>>Biosynthesis of amino acids
Human protein sequence Database
P00480
Mouse protein sequence database
P11725
Rat protein sequence database
P00481
Cellular localization
Mitochondrion matrix .
Tissue expression
Mainly expressed in liver and intestinal mucosa.
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