ABCC8
Function
Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.
Involvement in disease
Leucine-induced hypoglycemia
LIH
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Hyperinsulinemic hypoglycemia, familial, 1
HHF1
A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF1 is the most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF1 inheritance can be autosomal dominant or autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Diabetes mellitus, permanent neonatal, 3
PNDM3
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Transient neonatal diabetes mellitus 2
TNDM2
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
HRINS, SUR, SUR1, ABCC8, ATP-binding cassette sub-family C member 8, Sulfonylurea receptor 1