ABCC8

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. 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 been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]

Description

ATP binding cassette subfamily C member 8

Tissue specificity

Group enriched (pancreas, pituitary gland)

Subcell location

Nucleoli, Golgi apparatus, Cytosol

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted membrane proteins
Transporters

Chromosome

11 (17392498 - 17476879)

Ensembl ID

ENSG00000006071  (ver. 103.38)

Orthologs

Mouse Abcc8: ENSMUSG00000040136

UniProt

Q09428

neXtProt

NX_Q09428

Human splice variants
Mouse splice variants

Protein structure