Typical Testing Data/Standard Curve (for reference only)
Human Ornithine carbamoyltransferase, mitochondrial ELISA Kit | OTC elisa kit
Human Ornithine carbamoyltransferase, mitochondrial ELISA Kit
Typical Testing Data/Standard Curve (for reference only)
Typical Testing Data/Standard Curve (for reference only)
NCBI and Uniprot Product Information
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: EC 2.1.3.3; Amino Acid Metabolism - arginine and proline; Transferase; Mitochondrial
Chromosomal Location of Human Ortholog: Xp21.1
Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion
Molecular Function: amino acid binding; ornithine carbamoyltransferase activity; phosphate binding; phospholipid binding
Biological Process: arginine biosynthetic process via ornithine; citrulline biosynthetic process; liver development; midgut development; ornithine catabolic process; polyamine metabolic process; response to drug; response to insulin stimulus; response to zinc ion; urea cycle
Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Research Articles on OTC
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Product Notes
The Human OTC otc (Catalog #AAA2887535) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA2887535 ELISA Kit recognizes Human OTC. It is sometimes possible for the material contained within the vial of "Ornithine carbamoyltransferase, mitochondrial, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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