ABCC8 - Wikipedia
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 …
ABCC8 Gene - GeneCards | ABCC8 Protein | ABCC8 Antibody
Dec 24, 2024 · ABCC8 (ATP Binding Cassette Subfamily C Member 8) is a Protein Coding gene. Diseases associated with ABCC8 include Hyperinsulinemic Hypoglycemia, Familial, 1 and …
ABCC8 ATP binding cassette subfamily C member 8 [ (human)]
Mar 8, 2025 · 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 - MedlinePlus
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, …
Clinical and Genetic Characteristics of ABCC8 Nonneonatal …
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 …
ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8
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 …
ABCC8基因突变致新生儿糖尿病一例 - 中华医学遗传学杂志
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 …
ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): …
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. …
ATP 结合盒亚家族 C 成员 8（ABCC8）基因 | MCE
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 …
ABCC8人源基因|ABCC8基因突变_致病性_靶点-RDDC官网
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 …