ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene. [5][6] ABCC8 orthologs [7] have been identified in all mammals for which complete genome data are available. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.

2024年12月24日 · 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, Permanent Neonatal, 3. Among its related pathways are Inwardly rectifying K+ channels and Integration of energy metabolism.

An ABCC8/SUR1 mutation with relatively minor effects on K(ATP) channel activity and beta-cell glucose sensing causes diabetes in adulthood. This new ABCC8 mutation is associated with neonatal hyperinsulinism progressing within 10 years to insulinopenic diabetes.

ABCC8 gene mutations that cause permanent neonatal diabetes mellitus change single amino acids in the protein sequence. These mutations result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood sugar control.

The ABCC8 gene encoding sulfonylurea receptor (SUR), which is the regulatory subunit of K ATP channel, plays a key role in regulating insulin secretion [2, 3]. K ATP channel is a hetero-octamer and consists of four inwardly rectifying proteins of the potassium channel Kir6.2 and four regulatory subunits of the sulfonylurea receptors [4, 5].

HGNC Approved Gene Symbol: ABCC8. Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38) : 11:17,392,498-17,476,845 (from NCBI) Sulfonylureas are a class of drugs widely used as oral hypoglycemics to promote insulin secretion in the treatment of type 2 diabetes mellitus (T2D, NIDDM; see 125853).

It was demonstrated that ABCC8 mutations cause variable clinical phenotypes with glucose intolerance, overt diabetes, or insulin-requiring diabetes from a young age to adulthood. Several factors may explain this variability, also seen within families, such as the type and location of the mutation itself or other modifier genetic and ...

基因检测发现患儿携带ABCC8基因c.1608T>G(p.F536L)杂合突变，后者为人类基因突变数据库(Human Gene Mutation Database，HGMD)收录的已知致病突变 。 ABCC8 基因位于染色体11p15.1区，由39个外显子组成，编码与产生胰岛素相关的KATP通道的SUR1亚单位。

由该基因编码的蛋白质是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族 (ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White) 。 该蛋白是参与多药耐药性的 MRP 亚家族的成员。 这种蛋白质作为 ATP 敏感性钾通道和胰岛素释放的调节剂发挥作用。 在患有婴儿期高胰岛素血症性低血糖症的患者中观察到 ABCC8 基因的突变和编码蛋白的缺陷，这是一种不受调节和高胰岛素分泌的常染 …

这个基因编码的蛋白质是ATP结合盒（ABC）转运蛋白超家族的一员。 ABC蛋白在细胞内外膜之间运输各种分子。 ABC基因分为七个不同的亚家族（ABC1，MDR/TAP，MRP，ALD，OABP，GCN20，White）。 这个蛋白质是MRP亚家族的一员，与多药耐药有关。 这个蛋白质作为ATP敏感钾通道和胰岛素释放的调节剂发挥作用。 在婴儿高胰岛素性低血糖患者中观察到了ABCC8基因的突变和编码蛋白质的缺乏，这是一种胰岛素 …