2025年3月28日 · ABCC8 (ATP Binding Cassette Subfamily C Member 8) is a Protein Coding gene. Diseases associated with ABCC8 include Hyperinsulinemic Hypoglycemia, Familial, 1 …

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 …

2025年3月26日 · This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have …

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, …

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. …

Background: ABCC8 variants cause neonatal diabetes, maturity onset diabetes of the young (MODY), and hyperinsulinemic hypoglycemia because of activating or inactivating variants. In …

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 …

2021年9月30日 · The variants in ABCC8 gene encoding the SUR1 subunit of K ATP could cause a variety of phenotypes, including neonatal diabetes mellitus (ABCC8-NDM) and ABCC8 …

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 …

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 …