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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesABCG8, GBD4, STSL, ATP binding cassette subfamily G member 8, STSL1
External IDsOMIM: 605460 MGI: 1914720 HomoloGene: 23361 GeneCards: ABCG8
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2p21Start43,831,942 bp[1]
End43,882,988 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 17: 84.68 – 84.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

Interactive pathway map

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

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|px|alt=Statin Pathway edit]]
Statin Pathway edit
  1. The interactive pathway map can be edited at WikiPathways: "Statin_Pathway_WP430".

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000143921 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024254 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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. S2CID 29517167.
  7. "Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)".

Further reading

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


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