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ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000352 Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. GenEZ ORF Cloning On-demand $2699.00 30

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Gene Symbol ABCC8
Entrez Gene ID 6833
Full Name ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Synonyms ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, TNDM2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11p15.1

Summary 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, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described. [provided by RefSeq, Jul 2008].
Disorder

MIM: 600509

Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);

mRNA Protein Product Sequence Price Select
NM_000352, 118582254 NP_000343, 118582255 ATP-binding cassette sub-family C member 8 ORF Sequence $2500.00
KEGG
hsa02010ABC transporters
hsa04930Type II diabetes mellitus
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
Reactome
REACT_75918Inwardly rectifying K+ channels
REACT_13685Neuronal System
REACT_15518Transmembrane transport of small molecules
REACT_111217Metabolism
REACT_1505Integration of energy metabolism
REACT_15480ABC-family proteins mediated transport
REACT_18325Regulation of Insulin Secretion
REACT_75775ATP sensitive Potassium channels
REACT_75908Potassium Channels
Homo sapiens (human)ABCC8NP_000343.2
Pan troglodytes (chimpanzee)ABCC8XP_508310.4
Macaca mulatta (Rhesus monkey)ABCC8XP_002799667.1
Canis lupus familiaris (dog)ABCC8XP_542520.3
Bos taurus (cattle)ABCC8NP_001192539.1
Mus musculus (house mouse)Abcc8NP_035640.2
Rattus norvegicus (Norway rat)Abcc8NP_037171.2
Gallus gallus (chicken)ABCC8XP_421005.2
Danio rerio (zebrafish)abcc8NP_001166118.2
Drosophila melanogaster (fruit fly)SurNP_477472.2
GeneCards ABCC8
UniProt Q09428
MIM 600509
Ensembl ENSG00000006071
HGNC 59
HPRD 02741

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
ATP-binding cassette sub-family C member 8
Names
ATP-binding cassette sub-family C member 8
sulfonylurea receptor 1
sulfonylurea receptor (hyperinsulinemia)
ATP-binding cassette transporter sub-family C member 8

Interactant



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