Specifications
Immunogen
Recombinant full length protein corresponding to Human Ornithine Carbamoyltransferase aa 33-354. Mitochondrial Ornithine carbamoyltransferase (NP_000522)Sequence: NKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGKSL GMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNES
Applications
Application Notes
WB: 1/2000;
Target
Alternative Names
OTC; ornithine carbamoyltransferase; ornithine carbamoyltransferase, mitochondrial; OTCase; ornithine transcarbamylase; OCTD; MGC129967; MGC129968; MGC138856;
Product Background
Antigen Description
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.
Pathway
Arginine and proline metabolism, organism-specific biosystem; Arginine and proline metabolism, conserved biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of amino acids and derivatives, organism-specific biosystem; Urea cycle, organism-specific biosystem; Urea cycle, organism-specific biosystem;
Citations
Publication ()
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COA
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