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anti-Human ABCC8 Antibodies:
anti-Mouse (Murine) ABCC8 Antibodies:
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Mammalian Monoclonal ABCC8 Primary Antibody for ISt, IHC - ABIN1304971
Harel, Cohen, Hussain, Flanagan, Schlade-Bartusiak, Patel, Courtade, Li, Van Karnebeek, Kurata, Ellard, Chanoine, Gibson: Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. in Journal of pediatric endocrinology & metabolism : JPEM 2015
Show all 5 Pubmed References
Cow (Bovine) Polyclonal ABCC8 Primary Antibody for IHC, WB - ABIN2781496
Babenko: A novel ABCC8 (SUR1)-dependent mechanism of metabolism-excitation uncoupling. in The Journal of biological chemistry 2008
Show all 2 Pubmed References
Human Polyclonal ABCC8 Primary Antibody for ELISA, WB - ABIN314241
de Wet, Rees, Shimomura, Aittoniemi, Patch, Flanagan, Ellard, Hattersley, Sansom, Ashcroft: Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. in Proceedings of the National Academy of Sciences of the United States of America 2007
HNF1A and ABCC8 are among the most frequently mutated maturity-onset diabetes of the young genes in south India.
A lasso extension forms an interface between SUR1 and Kir6.2 adjacent to the ATP site in the propeller form and is disrupted in the quatrefoil form. These structures support the role of SUR1 as an ADP sensor and highlight the lasso extension as a key regulatory element in ADP's ability to override ATP inhibition.
Combination of heterozygous mutations in the ABCC8 and KCNJ11 genes could also lead to beta cells dysfunction presenting as congenital hyperinsulinism.
genetic association studies in pediatric population in Japan: Data confirm that mutations in KCNJ11 or ABCC8 are associated with neonatal diabetes mellitus. Novel mutations were identified; 2 in KCNJ11 (V64M, R201G) and 6 in ABCC8 (R216C, G832C, F1176L, A1263V, I196N, T229N). (KCNJ11 = ATP-sensitive inward rectifier potassium channel-11; ABCC8 = ATP-binding cassette subfamily C member-8)
report two patients with neonatal diabetes in whom we unexpectedly identified recessively inherited ABCC8 p.Glu747 loss-of-function mutations
In India, ABCC8 mutations were most common, with varied age of onset of diabetes, in our case series.
The patient carries a heterozygous mutation c.2690A>T(p.D897V) of ABCC8 gene.
Minor allele ABCC8 SNP genotypes have increased risk of cerebral edema, while major SNP alleles are protective in severe TBI.
The p.A1369S variant is associated with a significantly lower risk of type 2 diabetes (odds ratio [OR] 0.93; 95% CI 0.91, 0.95; P = 1.2 x 10(-11)). The variant is associated with increased BMI (+0.062 kg/m(2); 95% CI 0.037, 0.086; P = 8.1 x 10(-7)
Mutation in ABCC8 gene is associated with congenital hyperinsulinism.
ABCC8 mutation causing loss of function of beta-cell KATP channels lead to congenital hyperinsulinism, higher basal [Ca(2+)] i and insulin secretion, increased insulin secretion in response to amino acids but not to glucose, increased basal rate of oxygen consumption and mitochondrial mass, increased rates of glycolysis, increased serine/glycine and glutamine biosynthesis, and low gamma-aminobutyric acid (GABA) levels.
Hyperinsulinism-causing mutations cause multiple molecular defects in SUR1 nucleotide-binding domains.
Genes ABCC7, A3, A8, A12, and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels.
Cross-linking experiments showed that KATP channel inhibitors promoted interactions between the N terminus of Kir6.2 and SUR1, whereas channel openers did not, suggesting the inhibitors enhance intersubunit interactions to overcome channel biogenesis and trafficking defects.
Mutations of the ABCC8 gene is associated with congenital hyperinsulinism.
ABCC8 mutation is associated with neonatal diabetes mellitus and iDEND syndrome.
The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C member 8 (ABCC8) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH) and kcnj11 channel (KCNJ11) genes.
Mutations in the ABCC8 gene were the most common cause of congenital hyperinsulinism in our cohort.
ABCC8 mutation is associated with persistently elevated insulin concentrations.
A study of mutations in the ABCC8 gene that cause congenital hyperinsulinism demonstrate a clear functional distinction between SUR1 nucleotide-binding domain two (NBD2) and transmembrane domain (TMD) mutants
islets express mRNA transcripts for sulfonylurea receptor 1 (Sur1), inward rectifying potassium channel (Kir6.2, associated with Sur1), glucagon-like peptide 1 receptor (GLP1R), and adrenergic receptor alpha 2A (ADRalpha2A)
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.
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
, ATP-binding cassette, sub-family C, member 8
, ATP-binding cassette sub-family C member 8
, ATP-binding cassette transporter sub-family C member 8
, sulfonylurea receptor (hyperinsulinemia)
, sulfonylurea receptor 1
, sulfonylurea receptor
, sulphonylurea receptor 1