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Validated All-in-One™ qPCR Primer for ABCC8(NM_000352.4) Search again
Product ID:
HQP017826
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ABC36, HHF1, HI, HRINS, MRP8, PHHI, PNDM3, SUR, SUR1, SUR1delta2, TNDM2
Gene Description:
ATP binding cassette subfamily C member 8
Target Gene Accession:
NM_000352.4(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.
Summary
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described.
Gene References into function
- Assembly limits the pharmacological complexity of ATP-sensitive potassium channels
- Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
- implications of SUR1 in the genetic and pathopysiological mechanisms of type 2 diabetes mellitus
- allelic variation in exon 18, insulin secretion and insulin sensitivity in nondiabetic relatives of type 2 diabetic subjects
- ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. Not predictive of response to drugs.
- the MDR-like core of SUR is linked with the K(IR) pore in KATP channels
- down-regulation of this channel may facilitate myometrial function during late pregnancy
- variant is not associated with type 2 diabetes
- MRP8/MRP14 complex inhibited proliferation and differentiation of myoblasts and induced apoptosis via activation of caspase-3 in a time- and dose-dependent manner. Activated macrophages can destroy and regenerate myocytes via MRP8/MRP14.
- SUR1/Kir6.2 gene region contributes to risk of type 2 diabetes and encodes targets for hypoglycemic medications. Link between mechanism of disease and targets for pharmacological treatment.
- Mutations can yield partially functioning channels, including cases of hyperinsulinism that are fully responsive to diazoxide. therapy.
- Seven novel mutations were found in the ABCC8 coding region, one mutation was found in the KCNJ11 coding region, and one novel mutation was found in each of the two promoter regions screened.
- Polymorphisms of SUR1 gene predicted conversion from impaired glucose tolerance to type 2 diabetes, and the effect of these polymorphisms on diabetes risk was additive with E23K polymorphism of Kir6.2 gene.
- inc activates KATP by binding itself to extracellular His-326 and His-332 of the SUR1 subunit.
- In conjunction with this PIP2-dependent process, SUR1 also regulates channel activity via a PIP2-independent, but MgADP-dependent process.
- analysis of mutations in Kir6.2 (KCNJ11) and SUR1 (ABCC8), the spectrum of phenotypes, and the implications for treatment when patients are diagnosed with mutations in these genes [review]
- ABCC8 mutations may have a role in Spanish patients with Hyperinsulinism of Infancy
- SUR1 mutations constitute a new genetic aetiology for neonatal diabetes and they act by reducing the K(ATP) channel's ATP sensitivity
- Dominant mutations in ABCC8 accounted for 12 percent of cases of neonatal diabetes in the study group. Diabetes results when stimulatory action of SUR1 on Kir pore is elevated.
- The polymorphism of SUR1S1369A was associated with the therapeutic efficacy of gliclazide in type 2 diabetes. After gliclazide treatment, there was association between T/G polymorphism and decrease of HbA1c.
- SUR1 exon 16-3 cytosine/thymine polymorphism is a partial determinant of acute hyperglycaemia-cardiovascular risk factor in type 2 diabetes
- Mutation carriers with neonatal diabetes mellitus may be successflly transferred from insulin to sulfonylurea agents.
- An amino acid substitution (L225P) causes permanent neonatal diabetes but does not affect sulofonylurea sensitivity.
- Six new heterozygous ABCC8 mutations, mainly in patients presenting the transient form of neonatal diabetes.
- study has shown that mutations in the KCNJ11 and ABCC8 are a major cause of transient neonatal diabetes mellitus, accounting for 29% of all cases and 89% of non-6q24 transient neonatal diabetes mellitus
- There is no association between the ABCC8 polymorphism gene and the beta-cell function or the prevalence of chronic diabetic complications in obese patients with long-term T2DM, except for brain stroke.
- Kir6.2 and SUR1 co-localise with GLP-1 in L-cells and with glucose dependent insulinotropic peptide in K-cells in human ileum tissue
- study identifies a group of congenital hyperinsulinism-causing SUR1 mutations that cause channel biogenesis/trafficking defects
- SUR1 is abundant in pancreatic endocrine granules, where its function remains to be established.
- We present a term large-for-gestation neonate with congenital hyperinsulinism, who was found to have a novel sporadic missense mutation in the ABCC8 gene
- Significant associations between eight SNPs, including the KCNJ11 E23K and ABCC8 S1369A variants, and T2D were found.
- ABCC8 mutations cause PNDM, TNDM or permanent diabetes diagnosed outside the neonatal period.
- Paternal isodisomy of chromosome 11 unmasks a recessively acting gain-of-function mutation in the ABCC8 gene and causes deregulation of imprinted genes and development of neonatal diabetes and hemihypertrophy.
- Genetic mechanism to explain atypical histological diffuse forms of congenital hyperinsulinism due to mutations of ABCC8.
- Oral sulfonylurea therapy is safe and effective in the short term in most patients with diabetes due to SUR1 mutations and may successfully replace treatment with insulin injections.
- The R1380L & R1380C mutations in the ATP binding site enhance the off-rate of P(i), increasing MgATP hydrolysis, resulting in higher K(ATP) currents in pancreatic beta cells, thus reducing insulin secretion and producing diabetes.
- K(IR)6.2-based channels with diabetogenic receptors reveal that MgATP-dependent hyper-stimulation of mutant SUR can compromise the ability of K(ATP) channels to function as metabolic sensors
- Alanine in HI: a silent mutation cries out!
- Long-term follow-up of three patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene.
- An ABCC8/SUR1 mutation with relatively minor effects on K(ATP) channel activity and beta-cell glucose sensing causes diabetes in adulthood.
- This new ABCC8 mutation is associated with neonatal hyperinsulinism progressing within 10 years to insulinopenic diabetes.
- Messenger ribonucleic acid quantification of ABC transporters revealed alterations in ABC transporter expression in failing human hearts compared to nonfailing controls. These include increased expression of K(ATP) channel regulatory subunits ABCC8
- A new TNDM mutation (R826W) in the first nucleotide-binding domain (NBD1) of SUR1, was identified.
- The mutation of ABCC8 is recessively inherited.
- In two ohorts of Chinese type 2 diabetic patients, there us consistent evidence that the Ser1369Ala variant in the ABCC8 gene can influence the antidiabetic efficacy of gliclazide.
- Data suggest that the SUR1-regulated NCCa-ATP channel may be associated with germinal matrix hemorrhage (GMH), and that pharmacological block of these channels could potentially reduce the incidence of GMH.
- Nonsense mutation and a missense mutation in ABCC8 gene is associated with aberrant pancreatic development in congenital hyperinsulinism.