ATP Binding Cassette Transporter C8 (ABCC8)

[Edit]

ABC-C8; PHHI; MRP8; ABC36; HHF1; HI; HRINS; SUR; SUR1; TNDM2; Sulfonylurea Receptor(Hyperinsulinemia)

ATP Binding Cassette Transporter C8 (ABCC8)
ABCC8 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.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPD628Hu01Recombinant ATP Binding Cassette Transporter C8 (ABCC8)SDS-PAGE; WB; ELISA; IP.
AntibodiesPAD628Hu01Polyclonal Antibody to ATP Binding Cassette Transporter C8 (ABCC8)WB, ICC, IHC-P, IHC-F, ELISA
MAD628Hu21Monoclonal Antibody to ATP Binding Cassette Transporter C8 (ABCC8)WB, ICC, IHC-P, IHC-F, ELISA
Assay KitsSED628HuELISA Kit for ATP Binding Cassette Transporter C8 (ABCC8)Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant ATP Binding Cassette Transporter C8 (ABCC8)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to ATP Binding Cassette Transporter C8 (ABCC8)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to ATP Binding Cassette Transporter C8 (ABCC8)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for ATP Binding Cassette Transporter C8 (ABCC8)CLIA Kit Customized Service Offer
n/aELISA Kit for ATP Binding Cassette Transporter C8 (ABCC8)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant ATP Binding Cassette Transporter C8 (ABCC8)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to ATP Binding Cassette Transporter C8 (ABCC8)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to ATP Binding Cassette Transporter C8 (ABCC8)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for ATP Binding Cassette Transporter C8 (ABCC8)CLIA Kit Customized Service Offer
n/aELISA Kit for ATP Binding Cassette Transporter C8 (ABCC8)ELISA Kit Customized Service Offer
  1. "An abundant, truncated human sulfonylurea receptor 1 splice variant has prodiabetic properties and impairs sulfonylurea action."Cell. Mol. Life Sci. 69:129-148(2012) [PubMed] [Europe PMC] [Abstract]
  2. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  3. "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy."Science 268:426-429(1995) [PubMed] [Europe PMC] [Abstract]
  4. "Membrane topology of the amino-terminal region of the sulfonylurea receptor."J. Biol. Chem. 274:29122-29129(1999) [PubMed] [Europe PMC] [Abstract]
  5. "Molecular biology of adenosine triphosphate-sensitive potassium channels."Endocr. Rev. 20:101-135(1999) [PubMed] [Europe PMC] [Abstract]
  6. "Congenital hyperinsulinism: molecular basis of a heterogeneous disease."Hum. Mutat. 13:351-361(1999) [PubMed] [Europe PMC] [Abstract]
  7. "Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy."Am. J. Hum. Genet. 59:510-518(1996) [PubMed] [Europe PMC] [Abstract]
  8. "Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians."Diabetes 45:825-831(1996) [PubMed] [Europe PMC] [Abstract]
  9. "Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews."Hum. Mol. Genet. 5:1813-1822(1996) [PubMed] [Europe PMC] [Abstract]
  10. "Adenosine diphosphate as an intracellular regulator of insulin secretion."Science 272:1785-1787(1996) [PubMed] [Europe PMC] [Abstract]
  11. "Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM."Diabetes 47:476-481(1998) [PubMed] [Europe PMC] [Abstract]
  12. "Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene."Diabetes 47:598-605(1998) [PubMed] [Europe PMC] [Abstract]
  13. "Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy."Diabetes 47:1145-1151(1998) [PubMed] [Europe PMC] [Abstract]
  14. "Genetic heterogeneity in familial hyperinsulinism."Hum. Mol. Genet. 7:1119-1128(1998) [PubMed] [Europe PMC] [Abstract]
  15. "Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia."J. Clin. Invest. 102:1286-1291(1998) [PubMed] [Europe PMC] [Abstract]
  16. "A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland."Diabetes 48:408-415(1999) [PubMed] [Europe PMC] [Abstract]
  17. "Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism."Hum. Mutat. 14:23-29(1999) [PubMed] [Europe PMC] [Abstract]
  18. "Clinical features of 52 neonates with hyperinsulinism."N. Engl. J. Med. 340:1169-1175(1999) [PubMed] [Europe PMC] [Abstract]
  19. "Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1."Diabetes 49:114-120(2000) [PubMed] [Europe PMC] [Abstract]
  20. "Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1."J. Clin. Invest. 106:897-906(2000) [PubMed] [Europe PMC] [Abstract]
  21. "Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy."Proc. Natl. Acad. Sci. U.S.A. 98:2882-2887(2001) [PubMed] [Europe PMC] [Abstract]
  22. "Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels."J. Biol. Chem. 277:17139-17146(2002) [PubMed] [Europe PMC] [Abstract]
  23. "Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism."J. Clin. Endocrinol. Metab. 87:4502-4507(2002) [PubMed] [Europe PMC] [Abstract]
  24. "Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor."Diabetes 52:2403-2410(2003) [PubMed] [Europe PMC] [Abstract]
  25. "Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor."J. Clin. Endocrinol. Metab. 89:4450-4456(2004) [PubMed] [Europe PMC] [Abstract]
  26. "Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity." J. Clin. Endocrinol. Metab. 89:6224-6234(2004) [PubMed] [Europe PMC] [Abstract]
  27. "Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy."Clin. Endocrinol. (Oxf.) 62:458-465(2005) [PubMed] [Europe PMC] [Abstract]
  28. "Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes."J. Clin. Endocrinol. Metab. 90:789-794(2005) [PubMed] [Europe PMC] [Abstract]
  29. "A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes."Hum. Mol. Genet. 15:1793-1800(2006) [PubMed] [Europe PMC] [Abstract]
  30. "Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)."Hum. Mutat. 27:214-214(2006) [PubMed] [Europe PMC] [Abstract]
  31. "Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism."Mod. Pathol. 19:122-129(2006) [PubMed] [Europe PMC] [Abstract]
  32. "Activating mutations in the ABCC8 gene in neonatal diabetes mellitus."N. Engl. J. Med. 355:456-466(2006) [PubMed] [Europe PMC] [Abstract]
  33. "Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects."Am. J. Hum. Genet. 81:375-382(2007) [PubMed] [Europe PMC] [Abstract]
  34. "Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers."J. Clin. Endocrinol. Metab. 92:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]
  35. "Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism."Clin. Genet. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
  36. "Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture."J. Pediatr. Endocrinol. Metab. 28:345-351(2015) [PubMed] [Europe PMC] [Abstract]