OTC/Ornithine Carbamoyltransferase Antibodies, cDNA Clones Research Reagents

OTC (Ornithine Carbamoyltransferase, also known as OCTD), located on Xp11.4, is a Protein Coding gene. This nuclear gene encodes a mitochondrial matrix enzyme. The gene produces a 39935 Da protein composed of 354 amino acids. The OTC enzyme is synthesized in the cytoplasm and is directed to mitochondria by a 32-residue amino-terminal leader peptide. The protein sequence resembles that of both OTC and aspartate transcarbamylase from E. coli. Diseases such as Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To and Disorder Of Ornithine Metabolism are associated with OTC.

OTC/Ornithine Carbamoyltransferase Antibody (1)

    OTC/Ornithine Carbamoyltransferase cDNA Clone (45)

    NM_000531.5

    クローニングベクター cDNA 製品

    In lentiviral vector

    NM_008769.3

    クローニングベクター cDNA 製品

    In lentiviral vector

    NM_013078.1

    クローニングベクター cDNA 製品

    In lentiviral vector

    OTC/Ornithine Carbamoyltransferase の背景知識

    OTC (Ornithine Carbamoyltransferase) is a Protein Coding gene. The OTC gene, located on Xp11.4, is conserved in dog, cow, mouse, and rat, etc. This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. OTC deficiency is the most common urea cycle disorder and is inherited in an X-linked semi-dominant trait, and the OTC gene maps to Xp21. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. Diseases associated with OTC include Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To and Disorder Of Ornithine Metabolism. Among its related pathways are Arginine biosynthesis and Viral mRNA Translation.

    OTC/Ornithine Carbamoyltransferase の参考文献

    • Wang L, et al. (2017) Aav gene therapy corrects otc deficiency and prevents liver fibrosis in aged otc-knock out heterozygous mice. Mol Genet Metab 120 (4): 299-305.
    • Shchelochkov OA, et al. (2009) High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (otc) locus by oligonucleotide array cgh. Mol Genet Metab 96 (3): 97-105.
    • Lichter-Konecki U, et al. (1993) Ornithine transcarbamylase deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) Genereviews(®). University of Washington, Seattle
    • Joost K, et al. (2011) Whole xp deletion in a girl with mental retardation, epilepsy, and biochemical features of otc deficiency. Mol Syndromol 1 (6): 311-315.

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