Synthetic peptide sequence: 33-70aa, NKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQK.
Reconstitution information: Add 0.2 mL of distilled water will yield a concentration of 500 µg/mL.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 188.8.131.52; Ornithine carbamoyltransferase, mitochondrial; Ornithine transcarbamylase; OTC; OTCase; sparse fur
Gene Aliases: AI265390; OCTD; OTC; Sf; spf