ABCC8
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.
ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene.[5][6] ABCC8 orthologs[7] 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.[8] Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described.[9]
See also
[edit]References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000006071 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040136 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, et al. (June 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nature Genetics. 7 (2): 185–188. doi:10.1038/ng0694-185. PMID 7920639. S2CID 8681602.
- ^ Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, et al. (April 1995). "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy". Science. 268 (5209): 426–429. Bibcode:1995Sci...268..426T. doi:10.1126/science.7716548. PMID 7716548.
- ^ "OrthoMaM phylogenetic marker: ABCC8 coding sequence". Archived from the original on 2015-09-24. Retrieved 2009-12-09.
- ^ Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K (April 2013). "Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism". European Journal of Endocrinology. 168 (4): 557–564. doi:10.1530/EJE-12-0673. PMC 3599069. PMID 23345197.
- ^ "Entrez Gene: ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8".
External links
[edit]- 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
[edit]- 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.
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