Gene ABCC8
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Also known as
SUR1, PHHI, HHF1, MRP8, TNDM2Overview
ABCC8 (ATP Binding Cassette Subfamily C Member 8) encodes the sulfonylurea receptor 1 (SUR1), a key component of ATP-sensitive potassium channels in pancreatic beta cells. These channels play a crucial role in regulating insulin secretion in response to blood glucose levels.Mutations in ABCC8 are associated with several glucose metabolism disorders. Loss-of-function mutations can cause congenital hyperinsulinism, characterized by excessive insulin secretion and hypoglycemia. Gain-of-function mutations may lead to neonatal diabetes mellitus or transient neonatal diabetes. ABCC8 variants have also been implicated in type 2 diabetes susceptibility and response to sulfonylurea medications.
Understanding your ABCC8 genetic status is particularly important for diabetes management, as it can influence the effectiveness of sulfonylurea drugs and help guide treatment decisions. Individuals with certain ABCC8 variants may respond better to specific diabetes medications.