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.

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].

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.

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 "second hit" involving the 11p15.5 imprinted region on the maternal allele and clonal expansion of the cells with the loss

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 regulates pancreatic beta-cell K(ATP) channel activity, not only by its direct actions on Kir6.2 pore subunit, but also via ATP modulation of Syn-1A binding to SUR1.

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 ...

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 ABCC8 typically have severe diffuse forms of CHI unresponsive to diazoxide.