Sulfonylurea receptor
The gene ABCC8 encodes the sulfonylurea receptor a component that regulates the potassium channel in pancreatic beta cells. Loss-of-function mutations and inhibition of the protein result in stimulation of the insulin secretion. Familial hyperinsulinemic hypoglycemia is an autosomal recessive and less commonly dominant disorder. Gain-of-function mutations result in permanent or transient neonatal diabetes mellitus which is an autosomal recessive or dominant disorder.
Genetests:
Related Diseases:
References:
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Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
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Ellard S et al. (2007) Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
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Magge SN et al. (2004) Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.
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Glaser B et al. (1999) Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.
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Dunne MJ et al. (1997) Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor.
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Verkarre V et al. (1998) Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
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Nestorowicz A et al. (1996) Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
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Thomas PM et al. (1996) Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.
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Thomas PM et al. (1995) Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.
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Tornovsky S et al. (2004) Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
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Thornton PS et al. (2003) Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.
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Huopio H et al. (2003) A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.
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Huopio H et al. (2000) Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
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Otonkoski T et al. (1999) A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
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Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
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Thornton PS et al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.
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OMIM.ORG article
Omim 600509
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NCBI article
NCBI 6833
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Orphanet article
Orphanet ID 117665
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Wikipedia article
Wikipedia EN (Sulfonylurea_receptor)
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Update: Aug. 14, 2020