Entity Details

Primary name ABCC8
Entity type gene
Source Source Link

Details

PrimaryID6833
RefseqGeneNG_008867
SymbolABCC8
NameATP binding cassette subfamily C member 8
Chromosome11
Location11p15.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-12-01
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsABCC8_HUMAN

GO terms

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GOName
GO:0005267 potassium channel activity
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0006813 potassium ion transport
GO:0008281 sulfonylurea receptor activity
GO:0008282 inward rectifying potassium channel
GO:0016020 membrane
GO:0016887 ATP hydrolysis activity
GO:0019829 ATPase-coupled cation transmembrane transporter activity
GO:0031004 potassium ion-transporting ATPase complex
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0044325 transmembrane transporter binding
GO:0050796 regulation of insulin secretion
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport
GO:0098662 inorganic cation transmembrane transport

Diseases

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Disease IDSourceNameDescription
256450 OMIMFamilial hyperinsulinemic hypoglycemia 1 (HHF1)Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. The disease is caused by variants affecting the gene represented in this entry.
240800 OMIMLeucine-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. The disease is caused by variants affecting the gene represented in this entry.
610374 OMIMTransient 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. The disease is caused by variants affecting the gene represented in this entry.
618857 OMIMDiabetes 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. The disease is caused by variants affecting the gene represented in this entry.
602485 OMIMFamilial hyperinsulinemic hypoglycemia 3 (HHF3)Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.