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pmid8751851      Am+J+Hum+Genet 1996 ; 59 (3): 510-8
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  • Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy #MMPMID8751851
  • Thomas PM; Wohllk N; Huang E; Kuhnle U; Rabl W; Gagel RF; Cote GJ
  • Am J Hum Genet 1996[Sep]; 59 (3): 510-8 PMID8751851show ga
  • Familial persistent hyperinsulinemic hypoglycemia of infancy is a disorder of glucose homeostasis and is characterized by unregulated insulin secretion and profound hypoglycemia. Loss-of-function mutations in the second nucleotide-binding fold of the sulfonylurea receptor, a subunit of the pancreatic-islet beta-cell ATP-dependent potassium channel, has been demonstrated to be causative for persistent hyperinsulinemic hypoglycemia of infancy. We now describe three additional mutations in the first nucleotide-binding fold of the sulfonylurea-receptor gene. One point mutation disrupts the highly conserved Walker A motif of the first nucleotide-binding-fold region. The other two mutations occur in noncoding sequences required for RNA processing and are predicted to disrupt the normal splicing pathway of the sulfonylurea-receptor mRNA precursor. These data suggest that both nucleotide-binding-fold regions of the sulfonylurea receptor are required for normal regulation of beta-cell ATP-dependent potassium channel activity and insulin secretion.
  • |*ATP-Binding Cassette Transporters[MESH]
  • |*Potassium Channels, Inwardly Rectifying[MESH]
  • |*Sulfonylurea Compounds[MESH]
  • |Amino Acid Sequence[MESH]
  • |Base Sequence[MESH]
  • |Child[MESH]
  • |DNA, Complementary/genetics[MESH]
  • |Humans[MESH]
  • |Hyperinsulinism/*genetics[MESH]
  • |Hypoglycemia/*genetics[MESH]
  • |Infant[MESH]
  • |Molecular Sequence Data[MESH]
  • |Nucleotides/metabolism[MESH]
  • |Pancreas[MESH]
  • |Point Mutation/*genetics[MESH]
  • |Potassium Channels/chemistry/*genetics[MESH]
  • |RNA Processing, Post-Transcriptional/genetics[MESH]
  • |Receptors, Drug/chemistry/*genetics[MESH]
  • |Sequence Homology, Amino Acid[MESH]


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