ABCC8 (Q09428) variants and mutations

ABCC8 (also known as Q09428) is a human protein-coding gene encoding an ATP-binding cassette sub-family C member 8 protein. It senses cellular nucleotide levels as the regulatory component of pancreatic beta-cell ATP-sensitive potassium channels and thereby couples glucose metabolism to insulin secretion. Loss-of-function variants cause congenital hyperinsulinism, whereas activating variants can cause neonatal diabetes. This analysis covers 2,466 ABCC8 variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes type 2 diabetes mellitus, hyperinsulinemic hypoglycemia, familial, 1, and diabetes mellitus, permanent neonatal 3. Example ABCC8 variants include M1T, M1V, and P2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ABCC8 variants

Examples include M1T, M1V, P2S, P2T, L3V, A4P, A4S, A4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.