The ATP-binding cassette transporter subfamily C member 8 (ABCC8) gene is expressed in the pancreas where it controls the expression of the sulfonylurea receptor 1 (SUR1) subunit of the ATP-sensitive potassium channel found on the beta cell membrane. Opening and closing of the potassium channel regulates glucose-stimulated insulin secretion by coupling blood glucose levels and intracellular ATP concentration to the beta cell membrane’s electrical activity. Heterozygous mutations affecting the ABCC8 gene disrupt the potassium channel’s normal function leading to impaired insulin secretion. ABCC8-MODY may be characterized by congenital hypoglycemic hyperinsulinism, a transient or permanent form of neonatal diabetes mellitus, or adulthood-onset diabetes mellitus (PMID:33292863).
CIDeRplus
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