SLCO1A2

Chr 12

solute carrier organic anion transporter family member 1A2

Also known as: OATP, OATP-A, OATP1A2, SLC21A3

NCBI Gene: 6579 ENSG00000084453 UniProt: P46721

The protein is a sodium-independent transporter that mediates cellular uptake of organic anions including bile acids, steroid hormones, thyroid hormones, and retinol across various tissue barriers including intestinal, blood-brain, and retinal barriers. Mutations cause Rotor syndrome, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia due to impaired hepatic uptake and storage of bilirubin conjugates. The gene shows low constraint against loss-of-function variants, consistent with the relatively mild phenotype of the associated recessive condition.

ResearchSummary from RefSeq, UniProt

This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.27

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)