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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), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_001287174 Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_006718286 PREDICTED: Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), transcript variant X1, 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, SUR1delta2, TNDM2
General protein information
Preferred Names
ATP-binding cassette sub-family C member 8
ATP-binding cassette sub-family C member 8
sulfonylurea receptor 1
sulfonylurea receptor (hyperinsulinemia)
ATP-binding cassette transporter sub-family C member 8
Gene Type protein-coding
Organism Homo sapiens (human)



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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013].

MIM: 600509

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

mRNA Protein Product Sequence Price Select
NM_000352, 562815398 NP_000343, 118582255 ATP-binding cassette sub-family C member 8 isoform 2 ORF Sequence $2500.00
NM_001287174, 562815399 NP_001274103, 562815400 ATP-binding cassette sub-family C member 8 isoform 1 ORF Sequence $2500.00
XM_006718286, 578820713 XP_006718349, 578820714 ATP-binding cassette sub-family C member 8 isoform X1 ORF Sequence $2500.00
hsa02010ABC transporters
hsa04930Type II diabetes mellitus
hsa04911Insulin secretion
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
REACT_18325Regulation of insulin secretion
REACT_1505Integration of energy metabolism
REACT_15518Transmembrane transport of small molecules
REACT_15480ABC-family proteins mediated transport
REACT_13685Neuronal System
REACT_75775ATP sensitive Potassium channels
REACT_75908Potassium Channels
REACT_75918Inwardly rectifying K+ channels
Homo sapiens (human)ABCC8NP_001274103.1
Pan troglodytes (chimpanzee)ABCC8XP_508310.4
Macaca mulatta (Rhesus monkey)ABCC8XP_001088694.1
Canis lupus familiaris (dog)ABCC8XP_005633781.1
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
GO:0005975carbohydrate metabolic processNAS
GO:0006112energy reserve metabolic processTAS
GO:0006200ATP catabolic processIEA
GO:0006813potassium ion transportTAS
GO:0007165signal transductionIEA
GO:0007165signal transductionTAS
GO:0007268synaptic transmissionTAS
GO:0044281small molecule metabolic processTAS
GO:0050796regulation of insulin secretionTAS
GO:0055085transmembrane transportTAS
GO:0071805potassium ion transmembrane transportTAS
GO:0005886plasma membraneTAS
GO:0008076voltage-gated potassium channel complexIDA
GO:0005524ATP bindingIEA
GO:0008281sulfonylurea receptor activityIEA
GO:0015079potassium ion transmembrane transporter activityTAS
GO:0042626ATPase activity, coupled to transmembrane movement of substancesIEA
GO:0044325ion channel bindingIPI
GeneCards ABCC8
UniProt Q09428
Vega OTTHUMG00000166316
MIM 600509
Ensembl ENSG00000006071
HPRD 02741

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

What is the normal function of the ABCC8 gene?

The ABCC8 gene provides instructions for making the sulfonylurea receptor 1 (SUR1) protein. The SUR1 protein is one part (subunit) of the ATP-sensitive potassium (K-ATP) channel that is found across cell membranes in the beta cells of the pancreas. Beta cells secrete insulin, which is a hormone that helps control blood sugar levels. Insulin controls how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. The K-ATP channel controls the secretion of insulin out of beta cells and into the bloodstream. These channels open and close in response to the amount of glucose in the bloodstream, which helps regulate insulin secretion and control blood sugar levels. The closing of the channels results in a process that triggers insulin secretion by beta cells.


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