ABCC8

ATP-binding cassette, sub-family C (CFTR/MRP), member 8, also known as ABCC8, is a human gene.

PBB_Summary
section_title =
summary_text = 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. [cite web | title = Entrez Gene: ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6833| accessdate = ]

ee also

* ATP-binding cassette transporter
* Sulfonylurea receptor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Aguilar-Bryan L, Bryan J |title=Molecular biology of adenosine triphosphate-sensitive potassium channels. |journal=Endocr. Rev. |volume=20 |issue= 2 |pages= 101–35 |year= 1999 |pmid= 10204114 |doi=
*cite journal | author=Meissner T, Beinbrech B, Mayatepek E |title=Congenital hyperinsulinism: molecular basis of a heterogeneous disease. |journal=Hum. Mutat. |volume=13 |issue= 5 |pages= 351–61 |year= 1999 |pmid= 10338089 |doi= 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R |doilabel=10.1002/(SICI)1098-1004(1999)13:5351::AID-HUMU33.0.CO;2-R
*cite journal | author=Gloyn AL, Siddiqui J, Ellard S |title=Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |journal=Hum. Mutat. |volume=27 |issue= 3 |pages= 220–31 |year= 2006 |pmid= 16416420 |doi= 10.1002/humu.20292
*cite journal | author=Bryan J, Muñoz A, Zhang X, "et al." |title=ABCC8 and ABCC9: ABC transporters that regulate K+ channels. |journal=Pflugers Arch. |volume=453 |issue= 5 |pages= 703–18 |year= 2007 |pmid= 16897043 |doi= 10.1007/s00424-006-0116-z
*cite journal | author=Inagaki N, Gonoi T, Clement JP, "et al." |title=Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. |journal=Science |volume=270 |issue= 5239 |pages= 1166–70 |year= 1996 |pmid= 7502040 |doi=
*cite journal | author=Aguilar-Bryan L, Nichols CG, Wechsler SW, "et al." |title=Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. |journal=Science |volume=268 |issue= 5209 |pages= 423–6 |year= 1995 |pmid= 7716547 |doi=
*cite journal | author=Thomas PM, Cote GJ, Wohllk N, "et al." |title=Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Science |volume=268 |issue= 5209 |pages= 426–9 |year= 1995 |pmid= 7716548 |doi=
*cite journal | author=Thomas PM, Cote GJ, Hallman DM, Mathew PM |title=Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Am. J. Hum. Genet. |volume=56 |issue= 2 |pages= 416–21 |year= 1995 |pmid= 7847376 |doi=
*cite journal | author=Glaser B, Chiu KC, Anker R, "et al." |title=Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. |journal=Nat. Genet. |volume=7 |issue= 2 |pages= 185–8 |year= 1994 |pmid= 7920639 |doi= 10.1038/ng0694-185
*cite journal | author=Inagaki N, Gonoi T, Clement JP, "et al." |title=A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels. |journal=Neuron |volume=16 |issue= 5 |pages= 1011–7 |year= 1996 |pmid= 8630239 |doi=
*cite journal | author=Inoue H, Ferrer J, Welling CM, "et al." |title=Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. |journal=Diabetes |volume=45 |issue= 6 |pages= 825–31 |year= 1996 |pmid= 8635661 |doi=
*cite journal | author=Nichols CG, Shyng SL, Nestorowicz A, "et al." |title=Adenosine diphosphate as an intracellular regulator of insulin secretion. |journal=Science |volume=272 |issue= 5269 |pages= 1785–7 |year= 1996 |pmid= 8650576 |doi=
*cite journal | author=Thomas PM, Wohllk N, Huang E, "et al." |title=Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Am. J. Hum. Genet. |volume=59 |issue= 3 |pages= 510–8 |year= 1996 |pmid= 8751851 |doi=
*cite journal | author=Nestorowicz A, Wilson BA, Schoor KP, "et al." |title=Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. |journal=Hum. Mol. Genet. |volume=5 |issue= 11 |pages= 1813–22 |year= 1997 |pmid= 8923011 |doi=
*cite journal | author=Dunne MJ, Kane C, Shepherd RM, "et al." |title=Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. |journal=N. Engl. J. Med. |volume=336 |issue= 10 |pages= 703–6 |year= 1997 |pmid= 9041101 |doi=
*cite journal | author=Gribble FM, Tucker SJ, Ashcroft FM |title=The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide. |journal=EMBO J. |volume=16 |issue= 6 |pages= 1145–52 |year= 1997 |pmid= 9135131 |doi= 10.1093/emboj/16.6.1145
*cite journal | author=Ohta Y, Tanizawa Y, Inoue H, "et al." |title=Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM. |journal=Diabetes |volume=47 |issue= 3 |pages= 476–81 |year= 1998 |pmid= 9519757 |doi=
*cite journal | author=Hansen T, Echwald SM, Hansen L, "et al." |title=Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene. |journal=Diabetes |volume=47 |issue= 4 |pages= 598–605 |year= 1998 |pmid= 9568693 |doi=
*cite journal | author=Nestorowicz A, Glaser B, Wilson BA, "et al." |title=Genetic heterogeneity in familial hyperinsulinism. |journal=Hum. Mol. Genet. |volume=7 |issue= 7 |pages= 1119–28 |year= 1999 |pmid= 9618169 |doi=
*cite journal | author=Shyng SL, Ferrigni T, Shepard JB, "et al." |title=Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. |journal=Diabetes |volume=47 |issue= 7 |pages= 1145–51 |year= 1998 |pmid= 9648840 |doi=

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