ATP-binding cassette sub-family C member 8

Definition:

Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.

References:

[1]. C Saint-Martin, et al. Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. Clin Genet. 2015 May;87(5):448-54. [Content Brief]

[2]. Shira Harel, et al. 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. [Content Brief]

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