ABCC8

GENE INFORMATION

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Gene name

ABCC8 (HGNC Symbol)

Synonyms

ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, TNDM2

Description

ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (HGNC Symbol)

Entrez gene 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]

Chromosome

11

Cytoband

p15.1

Chromosome location (bp)

17392885 - 17476845

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000006071 (version 78.38)

Entrez gene

6833

UniProt

Q09428 (UniProt - Evidence at protein level)

neXtProt

NX_Q09428

Antibodypedia

ABCC8 antibodies
 

PROTEIN VIEW

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ABCC8-001
 
ABCC8-012
 
ABCC8-201
 
ABCC8-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCC8-001 ENSP00000374467
ENST00000389817
Q09428
Show all »
Show » Show » 1581 177 No >9
ABCC8-012 ENSP00000433638
ENST00000528374
Show » Show » 204 22.7 No 2
ABCC8-201 ENSP00000303960
ENST00000302539
Q09428
Show all »
Show » Show » 1582 177.1 No >9
ABCC8-202 ENSP00000483031
ENST00000612903
Q09428
Show all »
Show » Show » 50 5.5 No 1