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. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described. [provided by RefSeq, Jul 2008]

Chromosome

11 (Chromosome progress)

Cytoband

p15.1

Chromosome location (bp)

17414432 - 17498449

Ensembl

ENSG00000006071 (version 73.37)

Entrez gene

6833

UniProt

Q09428 (UniProt - Evidence at protein level)

neXtProt

NX_Q09428

Antibodypedia

ABCC8 antibodies
 

PROTEIN VIEW

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ABCC8-001
 
ABCC8-002
 
ABCC8-012
 
ABCC8-013
 
ABCC8-015
 
ABCC8-016
 
ABCC8-201
 
 
 
 
 

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
ABCC8-002 ENSP00000431653
ENST00000527905
E9PK50
Show all »
Show » Show » 997 112 No >9
ABCC8-012 ENSP00000433638
ENST00000528374
Show » Show » 204 22.7 No 2
ABCC8-013 ENSP00000437233
ENST00000526168
33 3.7 No 0
ABCC8-015 ENSP00000435378
ENST00000531642
62 6.3 No 0
ABCC8-016 ENSP00000434893
ENST00000531891
53 5.6 No 0
ABCC8-201 ENSP00000303960
ENST00000302539
Q09428
Show all »
Show » Show » 1582 177.1 No >9