ABCC8

ABCC8
Identifiers
Aliases	ABCC8, ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2, ATP binding cassette subfamily C member 8, PNDM3
External IDs	OMIM: 600509; MGI: 1352629; HomoloGene: 68048; GeneCards: ABCC8; OMA:ABCC8 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11p15.1 Start 17,392,498 bp End 17,476,894 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 B3|7 29.66 cM Start 45,753,947 bp End 45,829,457 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans right hemisphere of cerebellum anterior pituitary right frontal lobe primary visual cortex Brodmann area 9 cingulate gyrus anterior cingulate cortex middle temporal gyrus sural nerve Top expressed in islet of Langerhans cardiac muscle tissue of left ventricle cerebellar cortex lens medial geniculate nucleus lateral geniculate nucleus medial dorsal nucleus medial vestibular nucleus deep cerebellar nuclei primary visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding transmembrane transporter binding sulfonylurea receptor activity ATPase activity ATP binding ATP-activated inward rectifier potassium channel activity ATPase-coupled transmembrane transporter activity protein binding potassium channel activity Cellular component integral component of membrane membrane plasma membrane inward rectifying potassium channel sarcolemma mitochondrion synaptic vesicle membrane Biological process regulation of insulin secretion potassium ion transport signal transduction potassium ion transmembrane transport transmembrane transport cellular glucose homeostasis female pregnancy memory visual learning response to pH response to zinc ion negative regulation of low-density lipoprotein particle clearance negative regulation of angiogenesis response to lipopolysaccharide positive regulation of tumor necrosis factor production response to insulin positive regulation of potassium ion transport negative regulation of insulin secretion negative regulation of neurogenesis negative regulation of glial cell proliferation negative regulation of wound healing negative regulation of neuroblast migration cellular response to organic substance positive regulation of uterine smooth muscle relaxation positive regulation of voltage-gated potassium channel activity positive regulation of tight junction disassembly negative regulation of blood-brain barrier permeability Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6833 20927 Ensembl ENSG00000006071 ENSMUSG00000040136 UniProt Q09428 n/a RefSeq (mRNA) NM_000352 NM_001287174 NM_001351295 NM_001351296 NM_001351297 NM_011510 NM_001357538 RefSeq (protein) NP_000343 NP_001274103 NP_001338224 NP_001338225 NP_001338226 n/a Location (UCSC) Chr 11: 17.39 – 17.48 Mb Chr 7: 45.75 – 45.83 Mb PubMed search
Wikidata
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ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene. ABCC8 orthologs have been identified in all mammals for which complete genome data are available.

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 (neonatal diabetes), an autosomal dominant disease of defective insulin secretion, and congenital hyperinsulinism. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described.

See also

• ATP-binding cassette transporter
• Sulfonylurea receptor

External links

• GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism
• GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus
• Human ABCC8 genome location and ABCC8 gene details page in the UCSC Genome Browser.

Further reading

• Aguilar-Bryan L, Bryan J (April 1999). "Molecular biology of adenosine triphosphate-sensitive potassium channels". Endocrine Reviews. 20 (2): 101–135. doi:10.1210/edrv.20.2.0361. PMID 10204114.
• Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Human Mutation. 13 (5): 351–361. doi:10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R. PMID 10338089. S2CID 30125046.
• Gloyn AL, Siddiqui J, Ellard S (March 2006). "Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism". Human Mutation. 27 (3): 220–231. doi:10.1002/humu.20292. PMID 16416420. S2CID 38053792.
• Bryan J, Muñoz A, Zhang X, Düfer M, Drews G, Krippeit-Drews P, et al. (February 2007). "ABCC8 and ABCC9: ABC transporters that regulate K+ channels". Pflügers Archiv. 453 (5): 703–718. doi:10.1007/s00424-006-0116-z. PMID 16897043.
• Inagaki N, Gonoi T, Clement JP, Namba N, Inazawa J, Gonzalez G, et al. (November 1995). "Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor". Science. 270 (5239): 1166–1170. Bibcode:1995Sci...270.1166I. doi:10.1126/science.270.5239.1166. PMID 7502040. S2CID 26409797.
• Aguilar-Bryan L, Nichols CG, Wechsler SW, Clement JP, Boyd AE, González G, et al. (April 1995). "Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion". Science. 268 (5209): 423–426. Bibcode:1995Sci...268..423A. doi:10.1126/science.7716547. PMID 7716547.
• Thomas PM, Cote GJ, Hallman DM, Mathew PM (February 1995). "Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy". American Journal of Human Genetics. 56 (2): 416–421. PMC 1801118. PMID 7847376.
• Inagaki N, Gonoi T, Clement JP, Wang CZ, Aguilar-Bryan L, Bryan J, et al. (May 1996). "A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels". Neuron. 16 (5): 1011–1017. doi:10.1016/S0896-6273(00)80124-5. PMID 8630239. S2CID 1173139.
• Inoue H, Ferrer J, Welling CM, Elbein SC, Hoffman M, Mayorga R, et al. (June 1996). "Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians". Diabetes. 45 (6): 825–831. doi:10.2337/diabetes.45.6.825. PMID 8635661.
• Nichols CG, Shyng SL, Nestorowicz A, Glaser B, Clement JP, Gonzalez G, et al. (June 1996). "Adenosine diphosphate as an intracellular regulator of insulin secretion". Science. 272 (5269): 1785–1787. Bibcode:1996Sci...272.1785N. doi:10.1126/science.272.5269.1785. PMID 8650576. S2CID 24351329.
• Thomas PM, Wohllk N, Huang E, Kuhnle U, Rabl W, Gagel RF, et al. (September 1996). "Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy". American Journal of Human Genetics. 59 (3): 510–518. PMC 1914902. PMID 8751851.
• Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, et al. (November 1996). "Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews". Human Molecular Genetics. 5 (11): 1813–1822. doi:10.1093/hmg/5.11.1813. PMID 8923011.
• Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RF, Johnson PR, et al. (March 1997). "Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor". The New England Journal of Medicine. 336 (10): 703–706. doi:10.1056/NEJM199703063361005. hdl:2381/35991. PMID 9041101.
• Gribble FM, Tucker SJ, Ashcroft FM (March 1997). "The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide". The EMBO Journal. 16 (6): 1145–1152. doi:10.1093/emboj/16.6.1145. PMC 1169713. PMID 9135131.
• Ohta Y, Tanizawa Y, Inoue H, Hosaka T, Ueda K, Matsutani A, et al. (March 1998). "Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM". Diabetes. 47 (3): 476–481. doi:10.2337/diabetes.47.3.476. PMID 9519757.
• Hansen T, Echwald SM, Hansen L, Møller AM, Almind K, Clausen JO, et al. (April 1998). "Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene". Diabetes. 47 (4): 598–605. doi:10.2337/diabetes.47.4.598. PMID 9568693.
• Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, et al. (July 1998). "Genetic heterogeneity in familial hyperinsulinism". Human Molecular Genetics. 7 (7): 1119–1128. doi:10.1093/hmg/7.7.1119. PMID 9618169.
• Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, et al. (July 1998). "Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy". Diabetes. 47 (7): 1145–1151. doi:10.2337/diabetes.47.7.1145. PMID 9648840.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.