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Validated All-in-One™ qPCR Primer for OTC(NM_000531.5) Search again
Product ID:
HQP103186
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
OCTD, OTC1, OTCD, OTCase
Gene Description:
ornithine transcarbamylase
Target Gene Accession:
NM_000531.5(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This nuclear gene encodes a mitochondrial matrix enzyme.
Gene References into function
- deficiency in ornithine carbamoyltransferase enzymatic function conferred by the R40H mutation is likely caused by enhanced degradation of the preprotein in the cytosol.
- ornithine transcarbamylase (OTC) deficiency: review of mutations and polymorphisms in the human ornithine transcarbamylase gene
- seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency
- novel mutations in the ornithine transcarbamylase gene
- Haplotype analysis and phylogeny of polymorphisms of this protein were studied in two male populations.
- Using 2 (CA)n flanking markers of the OTC gene (DXS997 & DXS1068), the haplotypic background of 37 different mutational events was defined & compared with random control chromosomes. 1 particular haplotype is a risk factor for carrying OTC mutations.
- Mutations in the human ornithine transcarbamylase (OTC) gene is detected in patients with Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency.
- Novel mutations within the OTC gene are associated with Ornithine transcarbamylase (OTC) deficiency disorder.
- Novel mutations p.Leu9X, p.Arg26Pro, p.Gly100Arg, p.Met205Thr, p.Lys221Asn, p.Asp249Gly, p.Phe281Ser, p.Val323Met, c.571delC, c.853delC, and c.796-805del are associated with OTC deficiency.
- Describe a contiguous gene syndrome involving the RPGR, OTC and TM4SF2 genes in a male patient with severe neonatal ornithine transcarbamylase deficiency.
- Data show that OCT/ALT is a potent indicator for the diagnosis and the prognosis of hepatocellular carcinoma.
- In ten families with late-onset ornithine transcarbamylase (OTC) deficiency in male patients, three mutant alleles-R40H, R277W, and Y55D-were identified.
- Two known and three novel mutations of the ornithine transcarbamylase (OTC) gene are reported in five Japanese patients with OTC deficieny including two neonatal-onset, one late-onset, and two symptomatic female patients.
- Deletions and gene rearrangements of OTC gene are associated with Ornithine Carbamoyltransferase Deficiency Disease.