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]

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

Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K+ channels and insulin release.

Inorganic cation transmembrane transport
Potassium ion transmembrane transport
Potassium ion transport
Regulation of insulin secretion
Transmembrane transport

Cell membrane

Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.
Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.
A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance.
Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence.

Extracellular: 1-34 aa
Helical: 35-55 aa
Cytoplasmic: 56-75 aa
Helical: 76-96 aa
Extracellular: 97-101 aa
Helical: 102-122 aa
Cytoplasmic: 123-134 aa
Helical: 135-154 aa
Extracellular: 155-167 aa
Helical: 168-194 aa
Cytoplasmic: 195-311 aa
Helical: 312-331 aa
Extracellular: 332-355 aa
Helical: 356-376 aa
Cytoplasmic: 377-434 aa
Helical: 435-455 aa
Extracellular: 456-458 aa
Helical: 459-479 aa
Cytoplasmic: 480-541 aa
Helical: 542-562 aa
Extracellular: 563-584 aa
Helical: 585-605 aa
Cytoplasmic: 606-1004 aa
Helical: 1005-1025 aa
Extracellular: 1026-1072 aa
Helical: 1073-1093 aa
Cytoplasmic: 1094-1137 aa
Helical: 1138-1158 aa
Extracellular: 1159 aa
Helical: 1160-1180 aa
Cytoplasmic: 1181-1251 aa
Helical: 1252-1272 aa
Extracellular: 1273-1276 aa
Helical: 1277-1297 aa
Cytoplasmic: 1298-1581 aa