ABCC8

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ABCC8

A gene on chromosome 11p15.1 that encodes a protein of the MRP subfamily of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intracellular membranes, many of which are involved in multidrug resistance. ABCC8 modulates ATP-sensitive K+ channels and insulin release.

Molecular pathology
ABCC8 mutations are linked to hyperinsulinaemic hypoglycaemia of infancy and type-2 diabetes.
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References in periodicals archive ?
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the [beta]-cell sulfonylurea receptor.
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.