Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)

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Kir6.2; BIR; IKATP; Inward rectifier K(+) channel Kir6.2; ATP-sensitive inward rectifier potassium channel 11

Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)
KCNJ11 is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)CLIA Kit Customized Service Offer
n/aELISA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)CLIA Kit Customized Service Offer
n/aELISA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)CLIA Kit Customized Service Offer
n/aELISA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)ELISA Kit Customized Service Offer
  1. "Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor."Science 270:1166-1170(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells."Circ. Res. 83:1132-1143(1998) [PubMed] [Europe PMC] [Abstract]
  6. "Molecular basis for Kir6.2 channel inhibition by adenine nucleotides."Biophys. J. 84:266-276(2003) [PubMed] [Europe PMC] [Abstract]
  7. "Congenital hyperinsulinism: molecular basis of a heterogeneous disease."Hum. Mutat. 13:351-361(1999) [PubMed] [Europe PMC] [Abstract]
  8. "A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit."J. Physiol. (Lond.) 584:743-753(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Functional modulation of the ATP-sensitive potassium channel by extracellular signal-regulated kinase-mediated phosphorylation."Neuroscience 152:371-380(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy."Am. J. Hum. Genet. 56:416-421(1995) [PubMed] [Europe PMC] [Abstract]
  11. "Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy."Hum. Mol. Genet. 5:1809-1812(1996) [PubMed] [Europe PMC] [Abstract]
  12. "Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in white Caucasian subjects or evidence of abnormal function when expressed in vitro."Diabetologia 39:1233-1236(1996) [PubMed] [Europe PMC] [Abstract]
  13. "Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM."Diabetes 46:502-507(1997) [PubMed] [Europe PMC] [Abstract]
  14. "Molecular biology of adenosine triphosphate-sensitive potassium channels."Endocr. Rev. 20:101-135(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."Nat. Genet. 22:239-247(1999) [PubMed] [Europe PMC] [Abstract]
  16. "Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism."J. Clin. Endocrinol. Metab. 87:4502-4507(2002) [PubMed] [Europe PMC] [Abstract]
  17. "Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy."Diabetes 53:2713-2718(2004) [PubMed] [Europe PMC] [Abstract]
  18. "Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients."Diabetes 53:2719-2722(2004) [PubMed] [Europe PMC] [Abstract]
  19. "Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel."J. Clin. Endocrinol. Metab. 89:3932-3935(2004) [PubMed] [Europe PMC] [Abstract]
  20. "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]
  21. "Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes." N. Engl. J. Med. 350:1838-1849(2004) [PubMed] [Europe PMC] [Abstract]
  22. Erratum N. Engl. J. Med. 351:1470-1470(2004)
  23. "Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features."Proc. Natl. Acad. Sci. U.S.A. 101:17539-17544(2004) [PubMed] [Europe PMC] [Abstract]
  24. "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]
  25. "Relapsing diabetes can result from moderately activating mutations in KCNJ11."Hum. Mol. Genet. 14:925-934(2005) [PubMed] [Europe PMC] [Abstract]
  26. "KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes."Hum. Mutat. 25:22-27(2005) [PubMed] [Europe PMC] [Abstract]
  27. "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]
  28. "The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus."J. Clin. Endocrinol. Metab. 90:3174-3178(2005) [PubMed] [Europe PMC] [Abstract]
  29. "Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function."J. Clin. Endocrinol. Metab. 90:5401-5406(2005) [PubMed] [Europe PMC] [Abstract]
  30. "Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects."Diabetes 55:1705-1712(2006) [PubMed] [Europe PMC] [Abstract]
  31. "Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype."Diabetologia 49:1190-1197(2006) [PubMed] [Europe PMC] [Abstract]
  32. "Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)."Hum. Mutat. 27:214-214(2006) [PubMed] [Europe PMC] [Abstract]
  33. "A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels."J. Biol. Chem. 281:3006-3012(2006) [PubMed] [Europe PMC] [Abstract]
  34. "Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism."Mod. Pathol. 19:122-129(2006) [PubMed] [Europe PMC] [Abstract]
  35. "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]