ATP Binding Cassette Transporter C8 (ABCC8)

ABC-C8; PHHI; MRP8; ABC36; HHF1; HI; HRINS; SUR; SUR1; TNDM2; Sulfonylurea Receptor(Hyperinsulinemia)

SPN	T156
HGNC	59
MGI	1352629
PubMed	20573158
RGD	3786
UniProt	Q09428
Wiki	ABCC8

ABCC8 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.

Reference

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"Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism."
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"Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture."
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