OTC cdna clone
OTC cDNA Clone
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; Mitochondrial; Transferase
Chromosomal Location of Human Ortholog: Xp21.1
Cellular Component: mitochondrial matrix; mitochondrion
Molecular Function: ornithine carbamoyltransferase activity
Biological Process: arginine biosynthetic process via ornithine; citrulline biosynthetic process; ornithine catabolic process; urea cycle
Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Research Articles on OTC
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Product Notes
The OTC otc (Catalog #AAA1277368) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGCTGTTTA ATCTGAGGAT CCTGTTAAAC AATGCAGCTT TTAGAAATGG TCACAACTTC ATGGTTCGAA ATTTTCGGTG TGGACAACCA CTACAAAATA AAGTGCAGCT GAAGGGCCGT GACCTTCTCA CTCTAAGAAA CTTTACCGGA GAAGAAATTA AATATATGCT ATGGCTATCA GCAGATCTGA AATTTAGGAT AAAACAGAAA GGAGAGTATT TGCCTTTATT GCAAGGGAAG TCCTTAGGCA TGATTTTTGA GAAAAGAAGT ACTCGAACAA GATTGTCTAC AGAAACAGGC TTTGCACTTC TGGGAGGACA TCCTTGTTTT CTTACCACAC AAGATATTCA TTTGGGTGTG AATGAAAGTC TCACGGACAC GGCCCGTGTA TTGTCTAGCA TGGCAGATGC AGTATTGGCT CGAGTGTATA AACAATCAGA TTTGGACACC CTGGCTAAAG AAGCATCCAT CCCAATTATC AATGGGCTGT CAGATTTGTA CCATCCTATC CAGATCCTGG CTGATTACCT CACGCTCCAG GAACACTATA GCTCTCTGAA AGGTCTTACC CTCAGCTGGA TCGGGGATGG GAACAATATC CTGCACTCCA TCATGATGAG CGCAGCGAAA TTCGGAATGC ACCTTCAGGC AGCTACTCCA AAGGGTTATG AGCCGGATGC TAGTGTAACC AAGTTGGCAG AGCAGTATGC CAAAGAGAAT GGTACCAAGC TGTTGCTGAC AAATGATCCA TTGGAAGCAG CGCATGGAGG CAATGTATTA ATTACAGACA CTTGGATAAG CATGGGACAA GAAGAGGAGA AGAAAAAGCG GCTCCAGGCT TTCCAAGGTT ACCAGGTTAC AATGAAGACT GCTAAAGTTG CTGCCTCTGA CTGGACATTT TTACACTGCT TGCCCAGAAA GCCAGAAGAA GTGGATGATG AAGTCTTTTA TTCTCCTCGA TCACTAGTGT TCCCAGAGGC AGAAAACAGA AAGTGGACAA TCATGGCTGT CATGGTGTCC CTGCTGACAG ATTACTCACC TCAGCTCCAG AAGCCTAAAT TTTGA. It is sometimes possible for the material contained within the vial of "OTC, cDNA Clone" 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
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