ABCG5

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ATP-binding cassette, sub-family G (WHITE), member 5
Identifiers
Symbols ABCG5 ; STSL
External IDs OMIM605459 MGI1351659 HomoloGene31909 GeneCards: ABCG5 Gene
RNA expression pattern
PBB GE ABCG5 220383 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 64240 27409
Ensembl ENSG00000138075 ENSMUSG00000040505
UniProt Q9H222 Q99PE8
RefSeq (mRNA) NM_022436 NM_031884
RefSeq (protein) NP_071881 NP_114090
Location (UCSC) Chr 2:
44.04 – 44.07 Mb
Chr 17:
84.66 – 84.68 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family G member 5 is a protein that in humans is encoded by the ABCG5 gene.[1][2][3]

Function[edit]

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 ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, 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. ^ Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I, Bruckert E, Pandya A, Brewer HB Jr, Salen G, Dean M, Srivastava A, Patel SB (Jul 2001). "Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively". Am J Hum Genet 69 (2): 278–90. doi:10.1086/321294. PMC 1201544. PMID 11452359. 
  3. ^ a b "Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)". 

Further reading[edit]

External links[edit]

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