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 …

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 …

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, …

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 …

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 …

2003年8月19日 · Focal HI is caused by a paternally inherited ABCC8 or KCNJ11 pathogenic variant associated with autosomal recessive HI in combination with a somatically acquired …

2025年2月8日 · Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8. ATP …

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 …

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. …

ABCC8 encodes a subunit of the β-cell potassium channel (K ATP) whose loss of function is responsible for congenital hyperinsulinism (CHI). Patients with two recessive mutations of …