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 Subfamily C Member 8) is a Protein Coding gene. Diseases associated with ABCC8 include Hyperinsulinemic Hypoglycemia, Familial, 1 and Diabetes Mellitus, Transient Neonatal 2. Among its related pathways are Inwardly rectifying K+ channels and Development_Leptin signaling via PI3K-dependent pathway. GO annotations related to this gene include ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCC3.
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.