Aliases for ABCC8 Gene
External Ids for ABCC8 Gene
Previous HGNC Symbols for ABCC8 Gene
Previous GeneCards Identifiers for ABCC8 Gene
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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
GeneCards Summary for ABCC8 Gene
ABCC8 (ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8) is a Protein Coding gene. Diseases associated with ABCC8 include hyperinsulinemic hypoglycemia, familial, 1 and hypoglycemia of infancy, leucine-sensitive. Among its related pathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ion channel binding and potassium ion transmembrane transporter activity. An important paralog of this gene is ABCC5.
UniProtKB/Swiss-Prot for ABCC8 Gene
Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.