Description
Product Characteristics: FUNCTION: Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K+ channels and insulin release. Defects in ABCC8 are a cause of leucine-induced hypoglycemia (LIH). Defects in ABCC8 are a cause of diabetes mellitus permanent neonatal (PNDM). Defects in ABCC8 are the cause of transient neonatal diabetes mellitus type 2 (TNDM2). Subcellular location: Membrane, Multi-pass membrane protein.,ABCC Family,ATP-binding cassette sub-family C member 8, Sulfonylurea receptor 1, HRINS, SUR, SUR1
Target Information: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed\, however, the transcript variants have not been fully described. [provided by RefSeq, Jul 2008]