Gene Symbol | SLCO1B3 |
Entrez Gene ID | 28234 |
Full Name | solute carrier organic anion transporter family member 1B3 |
Synonyms | HBLRR,LST-2,LST-3TM13,LST3,OATP-8,OATP1B3,OATP8,SLC21A8 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]. |
Disorder MIM: | |
Disorder Html: | Hyperbilirubinemia, Rotor type, digenic, 237450 (3) |