ABCG8

ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.^[5][6][7]

ABCG8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5DO7
Identifiers
Aliases	ABCG8, GBD4, STSL, ATP binding cassette subfamily G member 8, STSL1
External IDs	OMIM: 605460; MGI: 1914720; HomoloGene: 23361; GeneCards: ABCG8; OMA:ABCG8 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p21 Start 43,831,942 bp[1] End 43,882,988 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 E4|17 55.02 cM Start 84,983,730 bp[2] End 85,007,761 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver jejunal mucosa duodenum testicle secondary oocyte gallbladder prefrontal cortex Brodmann area 9 right frontal lobe cingulate gyrus Top expressed in jejunum duodenum intestinal villus left lobe of liver ileum epithelium of small intestine embryo tibiofemoral joint Paneth cell colon More reference expression data BioGPS n/a
Gene ontology Molecular function ATPase activity protein binding ATP binding ATPase-coupled transmembrane transporter activity metal ion binding cholesterol transfer activity protein heterodimerization activity xenobiotic transmembrane transporter activity sterol transporter activity Cellular component integral component of membrane membrane ATP-binding cassette (ABC) transporter complex plasma membrane apical plasma membrane integral component of plasma membrane receptor complex Biological process negative regulation of intestinal phytosterol absorption intestinal cholesterol absorption negative regulation of intestinal cholesterol absorption lipid transport excretion cholesterol efflux cholesterol homeostasis transmembrane transport xenobiotic transmembrane transport response to nutrient phospholipid transport sterol transport sterol homeostasis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64241 67470 Ensembl ENSG00000143921 ENSMUSG00000024254 UniProt Q9H221 Q9DBM0 RefSeq (mRNA) NM_022437 NM_001357321 NM_001286005 NM_026180 NM_001347418 RefSeq (protein) NP_071882 NP_001344250 NP_001272934 NP_001334347 NP_080456 Location (UCSC) Chr 2: 43.83 – 43.88 Mb Chr 17: 84.98 – 85.01 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. 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.^[7]

A loss-of-function mutation in ABCG8 impairs the removal of sterols from cells and, in the homozygous case, leads to sitosterolemia. Heterozygous individuals show slightly increased sterol absoption, normal cholesterol levels, and slightly elevated phytosterol levels.^[8]

A gain-of-function SNP rs11887534 increases the likelihood of gallbladder disease, especially cholesterol gallstones. This is probably because more cholesterol is pumped into the bile lumen.^[9]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles. ^{[§ 1]}

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|alt=Statin pathway edit]]

Statin pathway edit

1. The interactive pathway map can be edited at WikiPathways: "Statin_Pathway_WP430".

See also

• ATP-binding cassette transporter