ABCC8


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Related to ABCC8: diazoxide, ABCC9, NCBI, PubMed, Congenital hyperinsulinism

ABCC8

A gene on chromosome 11p15.1 that encodes a protein of the MRP subfamily of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intracellular membranes, many of which are involved in multidrug resistance. ABCC8 modulates ATP-sensitive K+ channels and insulin release.

Molecular pathology
ABCC8 mutations are linked to hyperinsulinaemic hypoglycaemia of infancy and type-2 diabetes.
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References in periodicals archive ?
Genes associated with potassium channelopathies in humans Channelopathies Genes involved Anderson--Tawil syndrome KCNJ2 Episodic ataxia with myokymia type 1 KCNA1 Long QT syndrome type 1 KVLQT1 Long QT syndrome type 2 HERG Long QT syndrome type 5 MINK Long QT syndrome type 7 KCNJ2 Familial hyperinsulinemia of infancy KCNJ11, ABCC8 Source: Refs 22, 32
Newborns with diabetes require insulin treatment, but patients with mutations in KCNJ11 and ABCC8 genes can benefit from sulphonylurea.
Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.
ATP]-HI, there is a loss of heterozygosity involving a paternally derived mutation of the ABCC8 or KCNJ11 gene and a specific loss of maternal alleles of the imprinted chromosome region 11p15 resulting in a focal lesion (focal adenomatosis) (18).
ABCB1) (1,2) or function as regulatory molecules, such as ABCC7 (CFTR) (3, 4), ABCC8 (SUR1) (5), and ABCA1 (6).