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Validated All-in-One™ qPCR Primer for G6PD(NM_000402.3) Search again
Product ID:
HQP006515
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
G6PD1
Gene Description:
glucose-6-phosphate dehydrogenase
Target Gene Accession:
NM_000402.3(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 gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
Gene References into function
- DNA mutational analysis in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population
- A single mutation 202G>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself.
- a candidate gene for diabetes
- 31 alleles carrying the betaS mutation, 6 beta-thalassaemic alleles & 17 G6PD alleles, were studied from a group of carriers or affected subjects. Allele frequencies were 3% for haemoglobin S, 1% for beta-thalassaemia trait and 9.5% for G6PD deficiency.
- Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.
- Recombinant human glucose-6-phosphate dehydrogenase uses a rapid-equilibrium random-order mechanism for substrate binding.
- nucleotide diversity across a 5.2-kb region of G6PD in a sample of 160 Africans and 56 non-Africans, to determine how selection has shaped patterns of DNA variation at this gene
- Mutational analysis of G6PD variants in Malaysian Malays with G6PD deficiency.
- Nucleotide variability at G6pd and the signature of malarial selection in humans.
- Significant difference in distribution of G6PD activities as grouped by an increment of 100 U/10(12) red blood cells (RBCs) was observed between diabetic patients and healthy subjects.
- HPRT and G6PD origins of replication that are functional in the active X chromosome are utilized even when the two genes are transcriptionally silent in the inactive X chromosome.
- the association of G6PD Sumare and G6PD A- in a compound heterozygote gave rise to a very mild chronic hemolysis, and the red cell population containing G6PD A- is probably enough to protect against severe chronic hemolysis
- Molecular characterization of G6PD Insuli--a novel 989 CGC --> CAC (330 Arg --> His) mutation in exon 9 in the Indian population with normal enzyme activity
- This study suggests that the metabolic consequences of a combined deficiency of GPI and G6PD might be responsible for a different clinical outcome, severe congenital hemolytic anemia, than predicted for either defect in isolation.
- G6PD deficiency was studied in Nepalese males.
- screening a Mexican population identified new mutations located at cDNA nt 376 A --> T (126 Asn --> Tyr), nt 770 G --> T (257 Arg --> Leu), nt 1094 G --> A (365 Arg --> His), and nt 1285 A --> G (429 Lys --> Glu)
- glycolaldehyde inactivates glucose-6-phosphate dehydrogenase, glyceraldehyde-3-phosphate dehydrogenase, and Cu,Zn superoxide dismutase, suppresses cell growth, and induces apoptosis.
- 4% of males in the Kuwaiti population have G6PD deficiency coexisting with low activity of the UDPGT1 promoter
- distribution of erythrocyte G6PD activity in human populations reveals a selective pressure for maintaining high activity
- identified two de novo missense mutations in patients with severe G6PD deficiency as sites Pro409 and Val431, located on different subunits, that interact directly across the subunit interface and perturb formation of the G6PD dimer upon mutation
- gene 1226 C-->G mutation in a chronic nonspherocytic hemolytic anemia patient causes significant differences in Km values and enzyme stability, by changing tetramer interactions and disturbing the binding of structural NADP+
- determined the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Cyprus; one previously undescribed mutation in exon 3, 148C-->T (Pro50Ser), was found
- genetic diversity of enzyme forms in GPD deficiency in India.
- uncommon splice site mutation causes enzyme deficiency
- G6PD cDNA 1388 (G-->A), 1376 (G-->T), 95(A--> G), 392 (G-->T), 1024 (C-->T) and 1311 (C-->T) accompanied with intron 11 (93 T-->C) are the common mutations in Chinese population.
- Review. Nearly 150 different G6PD variants have been described. The recent determination of its 3-dimensional structure explains the mechanisms of G6PD deficiency in terms of structure-function relationship.
- Based on the increased susceptibility of G6PD-deficient patients to oxidative stress, an increase in Se-GSH-Px activity can facilitate the detoxification of reactive oxygen species.
- We have shown two distinct CREB-responsive sites in the glucose-6-phosphatase gene promoter that are responding to a constitutively active CREB or elevated concentrations of the catalytic subunit of cAMP-dependent protein kinase in the nucleus.
- G6PD Viangchan and Mahidol are common Southeast Asian variants and support the theory of genetic drifts throughout Southeast Asia.
- UGT1A1, OATP2 and G6PD genes have roles in genetic predisposition to unconjugated hyperbilirubinemia
- G6PD Viangchan and G6PD Mediterranean account for the main variants in G6PD deficiency among the Malay population in Malaysia.
- G6PD deficiency alone is not causative of diabetic ketosis and alterations in genes controlling both insulin secretion and G6PD-mediated antioxidant defenses may contribute to the predisposition in West Africans
- Mediterranean mutation at nt 563(C-->T) is predominant in the Iran's Golestan province (69%) and 26.7% of patients have Chatham mutation at nt 1003(G-->A)
- analysis of disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PD(Union) and G6PD(Andalus)
- A novel variant, named G6PD Split, is caused by a nucleotide change 1442 C-->G leading to the amino acid substitution 481 Pro-->Arg and is characterized by moderate enzyme deficiency (class III variant).
- G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population.
- Data show that 34 heterozygous females with from patients with G6PD deficiency variants was identified by denaturing high-performance liquid chromatography.
- Microtubule motor proteins colocalize with G6PDase; microtubule motor proteins participate in hexose monophosphate shunt enzyme transport within leukocytes.
- Arg459 and Arg463 play important roles in anchoring NADP+ to the catalytic domain, sequence from codon 459 to the carboxyl terminal is essential for the enzymatic function.
- analysis of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia
- These results, together with structural information, suggest that the instability of the R393H protein, enhanced by the weakened binding of "structural" NADP+, is the likely cause of the severe clinical manifestation observed for G6PD(Nashville).
- Novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic hemolytic anemia.
- Three different major polymorphic variants were found in Iran: G6PD Mediterranean 75.4% (187 out of 248), G6PD Chatham 19.76% (49 out of 248), G6PD Cosenza 2.02% (5 out of 248) and 7 samples out of 248 remained unknown.
- A novel genetic mutation (G130A) in the third exon was found in a case of an asymptomatic young subject affected by severe deficiency of Glucose 6-phosphate dehydrogenase (G6PD) activity.
- results do not confirm an association either positive or negative between the G6PD polymorphism and lymphoma risk.
- study found that the nucleotide substitutions associated with G6PD deficiency in Chinese subjects are distinctly different from those associated with G6PD deficiency in other ethnic groups
- biochemical and clinical effect of variants and discussion of the relationship between genotype and phenotype [review]
- prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population of Southwestern China; a new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, was identified
- In hematopoietic stem cell transplantationfemale donors heterozygous for X-linked recessive disorders, altered G6PD may cause clinical diseases in the recipients.
- Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PD(Plymouth) and G6PD(Mahidol).
- Mutation in the glucose-6-phosphate dehydrogenase gene is associated with Glucose-6-phosphate dehydrogenase deficiency
- glucose-6-phosphate dehydrogenase mutations in Mon and Burmese males of southern Myanmar who migrated to Thailand in Samutsakhon province. G
- investigation of mutations and G6PD locus haplotype diversity in Portuguese G6PD-deficient individuals
- Three novel mutations in the G6PD gene are presented, andt the changes they cause in the 3-dimensional structure of the enzyme are discussed.
- A symptomatic baby is affected by severe deficiency of glucose 6-phosphate dehydrogenase activity due to a novel de novo genetic mutation that may have occurred in a very early stage of embryogenesis or in the mother's germ cell lines.
- Whereas the frequency of beta-thalassemia minor among Moslems is higher than in the Jews in Shiraz, the frequency of G6PD deficiency was not significantly different in the two populations.
- Screening of 79 Tunisian G6PD deficiency patients revealed a newly described silent mutation in exon 12 associated with the polymorphism in the intron 11 93 TC in one subject and 2 single intronic base deletions: IVS V 17 (-C) & IVS VIII 43 (-G).
- G6PD activity was intensely elevated in tumor tissues.
- Data show that G6PD thus forms active dimer without structural NADP+. Apparently, the true role of the second, tightly bound NADP+ is to secure long-term stability.
- Gene polymorphisms of G6PD were detected in children with hereditary hyperbilirubinemia; degree of genetic heterogeneity and variant coexpression across G6PD gene points to polygenic nature of this disease.
- glucose-6-phosphate Dehydrogenase exon mutation is associated with hemolytic anemia with Glucose-6-phosphate dehydrogenase deficiency.
- Nine different glucose-6-phosphate dehydrogenase (G6PD) variants in a Malaysian population with Malay, Chinese, Indian and Orang Asli (aboriginal Malaysian) backgrounds were detected in G6PD-deficient cases.