Rabbit anti-Human OTC/Ornithine Carbamoyltransferase Polyclonal Antibody | anti-OTC antibody

Anti-OTC/Ornithine Carbamoyltransferase Antibody, Rabbit Polyclonal

Cat. Num. AAA8103181

• Gene Names: OTC; OCTD
• Reactivity: Human
• Applications: Western Blot
• Purity: Protein A & Antigen Affinity
• Synonyms: OTC/Ornithine Carbamoyltransferase; Polyclonal Antibody; Anti-OTC/Ornithine Carbamoyltransferase Antibody; Rabbit Polyclonal; OTC/Ornithine Carbamoyltransferase Antibody; Rabbit PAb; Antigen Affinity Purified; ornithine carbamoyltransferase; Anti-OCTD Antibody; anti-OTC antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Specificity: Human OTC/Ornithine Carbamoyltransferase
• Purity/Purification: Protein A & Antigen Affinity
• Form/Format: Liquid; PBS, pH7.0 with 0.03% Proclin300

• Applicable Applications for anti-OTC antibody: Western Blot (WB)
• Application Notes: WB: 1:500-1:2000
• Immunogen: A synthetic peptide corresponding to the center region of the Human OTC/Ornithine Carbamoyltransferase
• Conjugation: Unconjugated
• Preparation: Produced in rabbits immunized with a synthetic peptide corresponding to the center region of the Human OTC/Ornithine Carbamoyltransferase, and purified by antigen affinity chromatography.
• Preparation and Storage: This antibody can be stored at 2-8 degree C for one month without detectable loss of activity. Antibody products are stable for twelve months from date of receipt when stored at -20 degree C to -80 degree C. Avoid repeated freeze-thaw cycles.

Western Blot (WB)

(Anti-OTC rabbit polyclonal antibody at 1:500 dilution Lane A: Mouse liver tissue lysate Lane B: Rat liver tissue lysate Lysates/proteins at 30 ug per lane. Secondary Goat Anti-Rabbit IgG (H+L)/HRP at 1/10000 dilution. Developed using the ECL technique. Performed under reducing conditions. Predicted band size:40 kDa Observed band size: kDa)

Related Product Information for anti-OTC antibody

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.

References

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, SeattleJoost 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.

NCBI and Uniprot Product Information

• NCBI GI #: 38788445
• NCBI GeneID: 5009
• NCBI Accession #: NP_000522.3
• NCBI GenBank Nucleotide #: NM_000531.5
• UniProt Accession #: P00480; Q3KNR1; Q6B0I1; Q9NYJ5; A8K9P2; D3DWB0
• Molecular Weight: 39,935 Da
• NCBI Official Full Name: ornithine carbamoyltransferase, mitochondrial
• NCBI Official Synonym Full Names: ornithine carbamoyltransferase
• NCBI Official Symbol: OTC
• NCBI Official Synonym Symbols: OCTD
• NCBI Protein Information: ornithine carbamoyltransferase, mitochondrial; OTCase; ornithine transcarbamylase
• UniProt Protein Name: Ornithine carbamoyltransferase, mitochondrial
• UniProt Gene Name: OTC
• UniProt Synonym Gene Names: OTCase
• UniProt Entry Name: OTC_HUMAN

NCBI 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. [provided by RefSeq, Jul 2008]

Uniprot Description

OTC: Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD). 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. Belongs to the ATCase/OTCase family.

Protein type: Amino Acid Metabolism - arginine and proline; Mitochondrial; Transferase; EC 2.1.3.3

Chromosomal Location of Human Ortholog: Xp21.1

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane

Molecular Function: amino acid binding; ornithine carbamoyltransferase activity; phospholipid binding; phosphate binding

Biological Process: response to drug; citrulline biosynthetic process; response to zinc ion; midgut development; arginine biosynthetic process via ornithine; liver development; ornithine catabolic process; response to insulin stimulus; urea cycle

Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To