ABCG8

GENE INFORMATION

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Gene name

ABCG8 (HGNC Symbol)

Synonyms

GBD4

Description

ATP-binding cassette, sub-family G (WHITE), 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 White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

Chromosome

2 (Chromosome progress)

Cytoband

p21

Chromosome location (bp)

44066103 - 44105605

Ensembl

ENSG00000143921 (version 73.37)

Entrez gene

64241

UniProt

Q9H221 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H221

Antibodypedia

ABCG8 antibodies
 

PROTEIN VIEW

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ABCG8-001
 
 
 
 
 

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)

ABCG8-001 ENSP00000272286
ENST00000272286
Q9H221
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