ABCG8

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ATP-binding cassette, sub-family G (WHITE), member 8
Identifiers
Symbols ABCG8 ; GBD4; STSL
External IDs OMIM605460 MGI1914720 HomoloGene23361 GeneCards: ABCG8 Gene
Orthologs
Species Human Mouse
Entrez 64241 67470
Ensembl ENSG00000143921 ENSMUSG00000024254
UniProt Q9H221 Q9DBM0
RefSeq (mRNA) NM_022437 NM_001286005
RefSeq (protein) NP_071882 NP_001272934
Location (UCSC) Chr 2:
44.07 – 44.11 Mb
Chr 17:
84.68 – 84.7 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.[1][2][3]

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.[3]

Interactive pathway map[edit]

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

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Statin_Pathway_WP430 go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article
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Statin_Pathway_WP430 go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article
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Statin Pathway edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "Statin_Pathway_WP430". 

See also[edit]

References[edit]

  1. ^ Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH (Dec 2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science 290 (5497): 1771–5. doi:10.1126/science.290.5497.1771. PMID 11099417. 
  2. ^ Grunhage F, Acalovschi M, Tirziu S, Walier M, Wienker TF, Ciocan A, Mosteanu O, Sauerbruch T, Lammert F (Sep 2007). "Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol". Hepatology 46 (3): 793–801. doi:10.1002/hep.21847. PMID 17626266. 
  3. ^ a b "Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)". 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.