SLCO1B1

Chr 12Digenic recessive

solute carrier organic anion transporter family member 1B1

Also known as: HBLRR, LST-1, OATP-C, OATP1B1, OATP2, OATPC, SLC21A6

NCBI Gene: 10599ENSG00000134538UniProt: Q9Y6L6OMIM: 604843

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. [provided by RefSeq, Mar 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyperbilirubinemia, Rotor type, digenicMIM #237450
Digenic recessive
5
Active trials
154
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
—
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — SLCO1B1
Authoritative clinical overview · Recommended first read
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gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLCO1B1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients