ABCC8, Official Symbol ABCC8provided by HGNC Official Full Name ATP binding cassette subfamily C member 8provided by HGNC Primary source HGNC:HGNC:59 See related Ensembl:ENSG00000006071 MIM:600509; AllianceGenome:HGNC:59 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; PNDM3; TNDM2; SUR1delta2 Summary 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 in the ABCC8 gene and deficiencies in the encoded 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020] Expression Biased expression in brain (RPKM 4.8), adrenal (RPKM 3.5) and 9 other tissues See more Orthologs mouse all