ABCC8

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]

Description

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

Protein family

Membrane proteins predicted by MDM, Transporters

Chromosome

11:p15.1 (17414432 - 17498449)

Ensembl ID

ENSG00000006071  (ver. 69.37)

Orthologs

Mouse Abcc8: ENSMUSG00000040136

Human splice variants
Mouse splice variants