Pathway
Defective ABCC8 can cause hypo- and hyper-glycemias
ATP-binding cassette sub-family C member 8 (ABCC8) is a subunit of the beta-cell ATP-sensitive potassium channel (KATP). KATP channels play an important role in the control of insulin release. Elevation of the ATP:ADP ratio closes KATP channels leading to cellular depolarisation, calcium influx and exocytosis of insulin from its storage granules. Defects in ABCC8 can cause dysregulation of insulin secretion resulting in hyperglycemias or hypoglycemias. Specific phenotypes observed are noninsulin-dependent diabetes mellitus (NIDDM; MIM:125853), permanent neonatal diabetes mellitus (PNDM; MIM:606176), transient neonatal diabetes mellitus 2 (TNDM2; MIM:610374), familial hyperinsulinemic hypoglycemia 1 (HHF1; MIM:256450) and leucine-induced hypoglycemia (LIH; MIM:240800).
What the reference databases state
Statements
2 statements
2 statements · 1 reference database · Subject: Defective ABCC8 can cause hypo- and hyper-glycemias · Sources: Reactome
- ABCC8 participates in Defective ABCC8 can cause hypo- and hyper-glycemiasProteinReactome R-HSA-5683177Inferred only
- KCNJ11 participates in Defective ABCC8 can cause hypo- and hyper-glycemiasProteinReactome R-HSA-5683177Inferred only