Specifications
Immunogen
KLH conjugated synthetic peptide selected from the Center region of Human Ornithine Carbamoyltransferase.
Applications
Application Notes
IHC-P: 1/10 - 1/50. Flow Cyt: 1/10 - 1/50. WB: 1/1000.
Target
Alternative Names
OTC; ornithine carbamoyltransferase; ornithine carbamoyltransferase, mitochondrial; EC 2.1.3.3; MGC129967; MGC129968; MGC138856; OCTD; Ornithine carbamoyltransferase mitochondrial; Ornithine carbamoyltransferase, mitochondrial; Ornithine transcarbamylase;
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; Urea cycle, conserved biosystem; Urea cycle and metabolism of amino groups, organism-specific biosystem; arginine biosynthesis IV, conserved
Citations
Publication ()
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