Solute Carrier Organic Anion Transporter Family, Member 1B1

Alternative Names

  • SLCO1b1
  • Liver-Specific Transporter 1
  • LST1
  • Organic Anion Transporter 2
  • OATP2
  • Organic Anion Transporter C
  • Oatpc
  • Organic Anion Transporter 1B1
  • OATP1B1
  • Solute Carrier Family 21 (Organic Anion Transporter), Member 6
  • SLC21A6

Associated Diseases

Homocysteinemia
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OMIM Number

604843

NCBI Gene ID

10599

Uniprot ID

Q9Y6L6

Length

108,603 bases

No. of Exons

15

No. of isoforms

1

Protein Name

Solute carrier organic anion transporter family member 1B1

Molecular Mass

76449 Da

Amino Acid Count

691

Genomic Location

chr12:21,131,193-21,239,795

Gene Map Locus
12p12.1

Description

This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006446.5:c.388A>GUnited Arab EmiratesNC_000012.12:g.21176804A>GBenignNG_011745.1:g.50611A>G; NM_006446.5:c.388A>G; NP_006437.3:p.Asn130Asp2306283259983
NM_006446.5:c.521T>CLebanon; United Arab E...NC_000012.12:g.21178615T>CDrug ResponseAssociationHomocysteinemiaNG_011745.1:g.52422T>C; NM_006446.5:c.521T>C; NP_006437.3:p.Val174Ala414905637346
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