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NameATP-binding cassette sub-family C member 8
Synonyms
  • HRINS
  • Sulfonylurea receptor 1
  • SUR
  • SUR1
Gene NameABCC8
OrganismHuman
Amino acid sequence
>lcl|BSEQ0036970|ATP-binding cassette sub-family C member 8
MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHI
HHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTS
VVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYG
MLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFVNLLSKGTYWWMNAFIKTA
HKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLV
LSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAV
LLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNL
VAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATK
LSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYT
SISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRST
VKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLT
GPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTMIVGQVGCGKS
SLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSPERETATDLDIRKRGPVAYASQKPWLLN
ATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISVA
RALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWII
AMKDGTIQREGTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMS
SRDGLLQDEEEEEEEAAESEEDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQL
LKHMVLVAIDYWLAKWTDSALTLTPAARNCSLSQECTLDQTVYAMVFTVLCSLGIVLCLV
TSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSILNRFSSDCNTIDQHIPSTLE
CLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPLL
SHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVL
IAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKT
EAESYEGLLAPSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRT
GSGKSSFSLAFFRMVDTFEGHIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLD
PERKCSDSTLWEALEIAQLKLVVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTS
IFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEFD
KPEKLLSRKDSVFASFVRADK
Number of residues1581
Molecular Weight176990.36
Theoretical pI7.86
GO Classification
Functions
  • potassium channel activity
  • sulfonylurea receptor activity
  • ATPase activity, coupled to transmembrane movement of substances
  • ATP binding
  • ion channel binding
Processes
  • response to pH
  • negative regulation of insulin secretion
  • positive regulation of potassium ion transport
  • cellular response to organic substance
  • synaptic transmission
  • small molecule metabolic process
  • transmembrane transport
  • energy reserve metabolic process
  • regulation of insulin secretion
  • response to lipopolysaccharide
  • potassium ion transmembrane transport
  • response to insulin
  • potassium ion transport
  • response to zinc ion
  • response to drug
Components
  • synaptic vesicle membrane
  • plasma membrane
  • voltage-gated potassium channel complex
  • sarcolemma
General FunctionSulfonylurea receptor activity
Specific FunctionSubunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.
Pfam Domain Function
Transmembrane Regions35-55 76-96 102-122 135-154 168-194 312-331 356-376 435-455 459-479 542-562 585-605 1005-1025 1073-1093 1138-1158 1160-1180 1252-1272 1277-1297
GenBank Protein ID1374919
UniProtKB IDQ09428
UniProtKB Entry NameABCC8_HUMAN
Cellular LocationCell membrane
Gene sequence
>lcl|BSEQ0010200|ATP-binding cassette sub-family C member 8 (ABCC8)
ATGCCCCTGGCCTTCTGCGGCAGCGAGAACCACTCGGCCGCCTACCGGGTGGACCAGGGG
GTCCTCAACAACGGCTGCTTTGTGGACGCGCTCAACGTGGTGCCGCACGTCTTCCTACTC
TTCATCACCTTCCCCATCCTCTTCATTGGATGGGGAAGTCAGAGCTCCAAGGTGCACATC
CACCACAGCACATGGCTTCATTTCCCTGGGCACAACCTGCGGTGGATCCTGACCTTCATG
CTGCTCTTCGTCCTGGTGTGTGAGATTGCAGAGGGCATCCTGTCTGATGGGGTGACCGAA
TCCCACCATCTGCACCTGTACATGCCAGCCGGGATGGCGTTCATGGCTGCTGTCACCTCC
GTGGTCTACTATCACAACATCGAGACTTCCAACTTCCCCAAGCTGCTAATTGCCCTGCTG
GTGTATTGGACCCTGGCCTTCATCACCAAGACCATCAAGTTTGTCAAGTTCTTGGACCAC
GCCATCGGCTTCTCGCAGCTACGCTTCTGCCTCACAGGGCTGCTGGTGATCCTCTATGGG
ATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGGTGAGGAGATACATCTTCTTCAAGACA
CCGAGGGAGGTGAAGCCTCCCGAGGACCTGCAAGACCTGGGGGTACGCTTCCTGCAGCCC
TTCGTGAATCTGCTGTCCAAAGGCACCTACTGGTGGATGAACGCCTTCATCAAGACTGCC
CACAAGAAGCCCATCGACTTGCGAGCCATCGGGAAGCTGCCCATCGCCATGAGGGCCCTC
ACCAACTACCAACGGCTCTGCGAGGCCTTTGACGCCCAGGTGCGGAAGGACATTCAGGGC
ACTCAAGGTGCCCGGGCCATCTGGCAGGCACTCAGCCATGCCTTCGGGAGGCGCCTGGTC
CTCAGCAGCACTTTCCGCATCTTGGCCGACCTGCTGGGCTTCGCCGGGCCACTGTGCATC
TTTGGGATCGTGGACCACCTTGGGAAGGAGAACGACGTCTTCCAGCCCAAGACACAATTT
CTCGGGGTTTACTTTGTCTCATCCCAAGAGTTCCTTGCCAATGCCTACGTCTTAGCTGTG
CTTCTGTTCCTTGCCCTCCTACTGCAAAGGACATTTCTGCAAGCATCCTACTATGTGGCC
ATTGAAACTGGAATTAACTTGAGAGGAGCAATACAGACCAAGATTTACAATAAAATTATG
CACCTGTCCACCTCCAACCTGTCCATGGGAGAAATGACTGCTGGACAGATCTGTAATCTG
GTTGCCATCGACACCAATCAGCTCATGTGGTTTTTCTTCTTGTGCCCAAACCTCTGGGCT
ATGCCAGTACAGATCATTGTGGGTGTGATTCTCCTCTACTACATACTCGGAGTCAGTGCC
TTAATTGGAGCAGCTGTCATCATTCTACTGGCTCCTGTCCAGTACTTCGTGGCCACCAAG
CTGTCTCAGGCCCAGCGGAGCACACTGGAGTATTCCAATGAGCGGCTGAAGCAGACCAAC
GAGATGCTCCGCGGCATCAAGCTGCTGAAGCTGTACGCCTGGGAGAACATCTTCCGCACG
CGGGTGGAGACGACCCGCAGGAAGGAGATGACCAGCCTCAGGGCCTTTGCCATCTATACC
TCCATCTCCATTTTCATGAACACGGCCATCCCCATTGCAGCTGTCCTCATAACTTTCGTG
GGCCACGTCAGCTTCTTCAAAGAGGCCGACTTCTCGCCCTCCGTGGCCTTTGCCTCCCTC
TCCCTCTTCCATATCTTGGTCACACCGCTGTTCCTGCTGTCCAGTGTGGTCCGATCTACC
GTCAAAGCTCTAGTGAGCGTGCAAAAGCTAAGCGAGTTCCTGTCCAGTGCAGAGATCCGT
GAGGAGCAGTGTGCCCCCCATGAGCCCACACCTCAGGGCCCAGCCAGCAAGTACCAGGCG
GTGCCCCTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTGTCGGGGCCTCACC
GGCCCACTGCAGAGCCTGGTCCCCAGTGCAGATGGCGATGCTGACAACTGCTGTGTCCAG
ATCATGGGAGGCTACTTCACGTGGACCCCAGATGGAATCCCCACACTGTCCAACATCACC
ATTCGTATCCCCCGAGGCCAGCTGACTATGATCGTGGGGCAGGTGGGCTGCGGCAAGTCC
TCGCTCCTTCTAGCCGCACTGGGGGAGATGCAGAAGGTCTCAGGGGCTGTCTTCTGGAGC
AGCCTTCCTGACAGCGAGATAGGAGAGGACCCCAGCCCAGAGCGGGAGACAGCGACCGAC
TTGGATATCAGGAAGAGAGGCCCCGTGGCCTATGCTTCGCAGAAACCATGGCTGCTAAAT
GCCACTGTGGAGGAGAACATCATCTTTGAGAGTCCCTTCAACAAACAACGGTACAAGATG
GTCATTGAAGCCTGCTCTCTGCAGCCAGACATCGACATCCTGCCCCATGGAGACCAGACC
CAGATTGGGGAACGGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCC
CGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGATGACCCCTTCTCAGCTCTGGAT
ATCCATCTGAGTGACCACTTAATGCAGGCCGGCATCCTTGAGCTGCTCCGGGACGACAAG
AGGACAGTGGTCTTAGTGACCCACAAGCTACAGTACCTGCCCCATGCAGACTGGATCATT
GCCATGAAGGATGGCACCATCCAGAGGGAGGGTACCCTCAAGGACTTCCAGAGGTCTGAA
TGCCAGCTCTTTGAGCACTGGAAGACCCTCATGAACCGACAGGACCAAGAGCTGGAGAAG
GAGACTGTCACAGAGAGAAAAGCCACAGAGCCACCCCAGGGCCTATCTCGTGCCATGTCC
TCGAGGGATGGCCTTCTGCAGGATGAGGAAGAGGAGGAAGAGGAGGCAGCTGAGAGCGAG
GAGGATGACAACCTGTCGTCCATGCTGCACCAGCGTGCTGAGATCCCATGGCGAGCCTGC
GCCAAGTACCTGTCCTCCGCCGGCATCCTGCTCCTGTCGTTGCTGGTCTTCTCACAGCTG
CTCAAGCACATGGTCCTGGTGGCCATCGACTACTGGCTGGCCAAGTGGACCGACAGCGCC
CTGACCCTGACCCCTGCAGCCAGGAACTGCTCCCTCAGCCAGGAGTGCACCCTCGACCAG
ACTGTCTATGCCATGGTGTTCACGGTGCTCTGCAGCCTGGGCATTGTGCTGTGCCTCGTC
ACGTCTGTCACTGTGGAGTGGACAGGGCTGAAGGTGGCCAAGAGACTGCACCGCAGCCTG
CTAAACCGGATCATCCTAGCCCCCATGAGGTTTTTTGAGACCACGCCCCTTGGGAGCATC
CTGAACAGATTTTCATCTGACTGTAACACCATCGACCAGCACATCCCATCCACGCTGGAG
TGCCTGAGCCGCTCCACCCTGCTCTGTGTCTCAGCCCTGGCCGTCATCTCCTATGTCACA
CCTGTGTTCCTCGTGGCCCTCTTGCCCCTGGCCATCGTGTGCTACTTCATCCAGAAGTAC
TTCCGGGTGGCGTCCAGGGACCTGCAGCAGCTGGATGACACCACCCAGCTTCCACTTCTC
TCACACTTTGCCGAAACCGTAGAAGGACTCACCACCATCCGGGCCTTCAGGTATGAGGCC
CGGTTCCAGCAGAAGCTTCTCGAATACACAGACTCCAACAACATTGCTTCCCTCTTCCTC
ACAGCTGCCAACAGATGGCTGGAAGTCCGAATGGAGTACATCGGTGCATGTGTGGTGCTC
ATCGCAGCGGTGACCTCCATCTCCAACTCCCTGCACAGGGAGCTCTCTGCTGGCCTGGTG
GGCCTGGGCCTTACCTACGCCCTAATGGTCTCCAACTACCTCAACTGGATGGTGAGGAAC
CTGGCAGACATGGAGCTCCAGCTGGGGGCTGTGAAGCGCATCCATGGGCTCCTGAAAACC
GAGGCAGAGAGCTACGAGGGGCTCCTGGCACCATCGCTGATCCCAAAGAACTGGCCAGAC
CAAGGGAAGATCCAGATCCAGAACCTGAGCGTGCGCTACGACAGCTCCCTGAAGCCGGTG
CTGAAGCACGTCAATGCCCTCATCGCCCCTGGACAGAAGATCGGGATCTGCGGCCGCACC
GGCAGTGGGAAGTCCTCCTTCTCTCTTGCCTTCTTCCGCATGGTGGACACGTTCGAAGGG
CACATCATCATTGATGGCATTGACATCGCCAAACTGCCGCTGCACACCCTGCGCTCACGC
CTCTCCATCATCCTGCAGGACCCCGTCCTCTTCAGCGGCACCATCCGATTTAACCTGGAC
CCTGAGAGGAAGTGCTCAGATAGCACACTGTGGGAGGCCCTGGAAATCGCCCAGCTGAAG
CTGGTGGTGAAGGCACTGCCAGGAGGCCTCGATGCCATCATCACAGAAGGCGGGGAGAAT
TTCAGCCAGGGACAGAGGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACCAGC
ATCTTCATCATGGACGAGGCCACGGCTTCCATTGACATGGCCACGGAAAACATCCTCCAA
AAGGTGGTGATGACAGCCTTCGCAGACCGCACTGTGGTCACCATCGCGCATCGAGTGCAC
ACCATCCTGAGTGCAGACCTGGTGATCGTCCTGAAGCGGGGTGCCATCCTTGAGTTCGAT
AAGCCAGAGAAGCTGCTCAGCCGGAAGGACAGCGTCTTCGCCTCCTTCGTCCGTGCAGAC
AAGTGA
GenBank Gene IDL78243
GeneCard IDNot Available
GenAtlas IDABCC8
HGNC IDHGNC:59
Chromosome Location11
Locus11p15.1
References
  1. Schmid D, Stolzlechner M, Sorgner A, Bentele C, Assinger A, Chiba P, Moeslinger T: An abundant, truncated human sulfonylurea receptor 1 splice variant has prodiabetic properties and impairs sulfonylurea action. Cell Mol Life Sci. 2012 Jan;69(1):129-48. doi: 10.1007/s00018-011-0739-x. Epub 2011 Jun 14. 21671119
  2. Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y: Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 2006 Mar 23;440(7083):497-500. 16554811
  3. Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J: Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995 Apr 21;268(5209):426-9. 7716548
  4. Raab-Graham KF, Cirilo LJ, Boettcher AA, Radeke CM, Vandenberg CA: Membrane topology of the amino-terminal region of the sulfonylurea receptor. J Biol Chem. 1999 Oct 8;274(41):29122-9. 10506167
  5. Aguilar-Bryan L, Bryan J: Molecular biology of adenosine triphosphate-sensitive potassium channels. Endocr Rev. 1999 Apr;20(2):101-35. 10204114
  6. Meissner T, Beinbrech B, Mayatepek E: Congenital hyperinsulinism: molecular basis of a heterogeneous disease. Hum Mutat. 1999;13(5):351-61. 10338089
  7. Thomas PM, Wohllk N, Huang E, Kuhnle U, Rabl W, Gagel RF, Cote GJ: Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. Am J Hum Genet. 1996 Sep;59(3):510-8. 8751851
  8. Inoue H, Ferrer J, Welling CM, Elbein SC, Hoffman M, Mayorga R, Warren-Perry M, Zhang Y, Millns H, Turner R, Province M, Bryan J, Permutt MA, Aguilar-Bryan L: Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. Diabetes. 1996 Jun;45(6):825-31. 8635661
  9. Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP 4th, Bryan J, Aguilar-Bryan L, Permutt MA: Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet. 1996 Nov;5(11):1813-22. 8923011
  10. Nichols CG, Shyng SL, Nestorowicz A, Glaser B, Clement JP 4th, Gonzalez G, Aguilar-Bryan L, Permutt MA, Bryan J: Adenosine diphosphate as an intracellular regulator of insulin secretion. Science. 1996 Jun 21;272(5269):1785-7. 8650576
  11. Ohta Y, Tanizawa Y, Inoue H, Hosaka T, Ueda K, Matsutani A, Repunte VP, Yamada M, Kurachi Y, Bryan J, Aguilar-Bryan L, Permutt MA, Oka Y: Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM. Diabetes. 1998 Mar;47(3):476-81. 9519757
  12. Hansen T, Echwald SM, Hansen L, Moller AM, Almind K, Clausen JO, Urhammer SA, Inoue H, Ferrer J, Bryan J, Aguilar-Bryan L, Permutt MA, Pedersen O: Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene. Diabetes. 1998 Apr;47(4):598-605. 9568693
  13. Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG: Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes. 1998 Jul;47(7):1145-51. 9648840
  14. Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, Thornton PS, Permutt MA: Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet. 1998 Jul;7(7):1119-28. 9618169
  15. Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fekete C, Saudubray JM, Junien C: 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. 1998 Oct 1;102(7):1286-91. 9769320
  16. Otonkoski T, Ammala C, Huopio H, Cote GJ, Chapman J, Cosgrove K, Ashfield R, Huang E, Komulainen J, Ashcroft FM, Dunne MJ, Kere J, Thomas PM: A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes. 1999 Feb;48(2):408-15. 10334322
  17. Glaser B, Furth J, Stanley CA, Baker L, Thornton PS, Landau H, Permutt MA: Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. Hum Mutat. 1999;14(1):23-9. 10447255
  18. de Lonlay-Debeney P, Poggi-Travert F, Fournet JC, Sempoux C, Dionisi Vici C, Brunelle F, Touati G, Rahier J, Junien C, Nihoul-Fekete C, Robert JJ, Saudubray JM: Clinical features of 52 neonates with hyperinsulinism. N Engl J Med. 1999 Apr 15;340(15):1169-75. 10202168
  19. Tanizawa Y, Matsuda K, Matsuo M, Ohta Y, Ochi N, Adachi M, Koga M, Mizuno S, Kajita M, Tanaka Y, Tachibana K, Inoue H, Furukawa S, Amachi T, Ueda K, Oka Y: 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. 2000 Jan;49(1):114-20. 10615958
  20. Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, Otonkoski T: Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest. 2000 Oct;106(7):897-906. 11018078
  21. Cartier EA, Conti LR, Vandenberg CA, Shyng SL: 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. 2001 Feb 27;98(5):2882-7. 11226335
  22. Taschenberger G, Mougey A, Shen S, Lester LB, LaFranchi S, Shyng SL: Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. J Biol Chem. 2002 May 10;277(19):17139-46. Epub 2002 Feb 26. 11867634
  23. Huopio H, Jaaskelainen J, Komulainen J, Miettinen R, Karkkainen P, Laakso M, Tapanainen P, Voutilainen R, Otonkoski T: Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. J Clin Endocrinol Metab. 2002 Oct;87(10):4502-7. 12364426
  24. Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A, Aguilar-Bryan L, Stanley CA: Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. Diabetes. 2003 Sep;52(9):2403-10. 12941782
  25. Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA: Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. J Clin Endocrinol Metab. 2004 Sep;89(9):4450-6. 15356046
  26. Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, Glaser B: Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34. 15579781
  27. Ohkubo K, Nagashima M, Naito Y, Taguchi T, Suita S, Okamoto N, Fujinaga H, Tsumura K, Kikuchi K, Ono J: Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy. Clin Endocrinol (Oxf). 2005 Apr;62(4):458-65. 15807877
  28. Henwood MJ, Kelly A, Macmullen C, Bhatia P, Ganguly A, Thornton PS, Stanley CA: Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. J Clin Endocrinol Metab. 2005 Feb;90(2):789-94. Epub 2004 Nov 23. 15562009
  29. Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S: A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet. 2006 Jun 1;15(11):1793-800. Epub 2006 Apr 13. 16613899
  30. Fernandez-Marmiesse A, Salas A, Vega A, Fernandez-Lorenzo JR, Barreiro J, Carracedo A: Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). Hum Mutat. 2006 Feb;27(2):214. 16429405
  31. Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. Mod Pathol. 2006 Jan;19(1):122-9. 16357843
  32. Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P: Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med. 2006 Aug 3;355(5):456-66. 16885549
  33. Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet. 2007 Aug;81(2):375-82. Epub 2007 Jun 29. 17668386
  34. Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I: 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. 2007 Apr;92(4):1276-82. Epub 2007 Jan 9. 17213273
  35. Saint-Martin C, Zhou Q, Martin GM, Vaury C, Leroy G, Arnoux JB, de Lonlay P, Shyng SL, Bellanne-Chantelot C: Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. Clin Genet. 2015 May;87(5):448-54. doi: 10.1111/cge.12428. Epub 2014 Jun 6. 24814349
  36. Harel S, Cohen AS, Hussain K, Flanagan SE, Schlade-Bartusiak K, Patel M, Courtade J, Li JB, Van Karnebeek C, Kurata H, Ellard S, Chanoine JP, Gibson WT: Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):345-51. doi: 10.1515/jpem-2014-0265. 25720052