ABCC8

ABCC8
Identifiers
Aliases	ABCC8, ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2, ATP binding cassette subfamily C member 8, PNDM3
External IDs	OMIM: 600509 MGI: 1352629 HomoloGene: 68048 GeneCards: ABCC8
Gene location (Human)
Chr.	Chromosome 11 (human)
End	17,476,894 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	45,829,457 bp
RNA expression pattern
	Top expressed in
	islet of Langerhans; ; anterior pituitary; ; Brodmann area 9; ; cingulate gyrus; ; middle temporal gyrus; ; sural nerve; ; body of pancreas; ; prefrontal cortex; ; Brodmann area 23; ; nucleus accumbens;
	Top expressed in
	islet of Langerhans; ; cerebellar cortex; ; lens; ; medial geniculate nucleus; ; lateral geniculate nucleus; ; medial dorsal nucleus; ; medial vestibular nucleus; ; interventricular septum; ; primary motor cortex; ; extraocular muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; transmembrane transporter binding; sulfonylurea receptor activity; ATPase activity; ATP binding; ATP-activated inward rectifier potassium channel activity; ATPase-coupled transmembrane transporter activity; protein binding; potassium channel activity;
Cellular component	integral component of membrane; membrane; plasma membrane; inward rectifying potassium channel; sarcolemma; mitochondrion; synaptic vesicle membrane;
Biological process	regulation of insulin secretion; potassium ion transport; signal transduction; potassium ion transmembrane transport; transmembrane transport; cellular glucose homeostasis; female pregnancy; memory; visual learning; response to pH; response to zinc ion; negative regulation of low-density lipoprotein particle clearance; negative regulation of angiogenesis; response to lipopolysaccharide; positive regulation of tumor necrosis factor production; response to insulin; positive regulation of potassium ion transport; negative regulation of insulin secretion; negative regulation of neurogenesis; negative regulation of glial cell proliferation; negative regulation of wound healing; negative regulation of neuroblast migration; cellular response to organic substance; positive regulation of uterine smooth muscle relaxation; positive regulation of voltage-gated potassium channel activity; positive regulation of tight junction disassembly; negative regulation of blood-brain barrier permeability;
	Sources:Amigo / QuickGO
Orthologs
	6833
	20927
	ENSG00000006071
	ENSMUSG00000040136
	Q09428
	n/a
	NM_000352; NM_001287174; NM_001351295; NM_001351296; NM_001351297
	NM_011510; NM_001357538
	NP_000343; NP_001274103; NP_001338224; NP_001338225; NP_001338226
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene. ABCC8 orthologs 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. 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 and deficiencies in this 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 (neonatal diabetes), an autosomal dominant disease of defective insulin secretion, and congenital hyperinsulinism. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described.

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