SLCO1B1 Chromosome 12
Solute carrier organic anion transporter family member 1B1
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier organic anion transporter family
Locus Type
gene with protein product
Location
12p12.1
Ensembl
ENSG00000134538
Associated Conditions (20)
Rotor syndrome
simvastatin acid response - Metabolism/PK
Gilbert syndrome
rosuvastatin response - Metabolism/PK
simvastatin response - Toxicity
hmg coa reductase inhibitors response - Toxicity
atorvastatin response - Toxicity
atorvastatin response - Metabolism/PK
fluvastatin response - Metabolism/PK
fluvastatin response - Toxicity
lovastatin acid response - Metabolism/PK
simvastatin response - Metabolism/PK
lovastatin response - Metabolism/PK
pitavastatin response - Metabolism/PK
rosuvastatin response - Toxicity
SLCO1B1-related disorder
lovastatin response - Toxicity
pravastatin response - Toxicity
See cases
Hepatocellular carcinoma
Key Variants
RS4149056
drug response
Rotor syndrome, simvastatin acid response - Metabolism/PK, Gilbert syndrome
Drug Response
RS71581991
Conflicting classifications of pathogenicity
Rotor syndrome, Rotor syndrome
Health Risk
RS763873797
Conflicting classifications of pathogenicity
Rotor syndrome, Rotor syndrome
Health Risk
RS76647672
Conflicting classifications of pathogenicity
Rotor syndrome, Rotor syndrome
Health Risk
RS79135870
Conflicting classifications of pathogenicity
Rotor syndrome, Rotor syndrome
Health Risk
RS200994482
Likely pathogenic
See cases, Hepatocellular carcinoma, Rotor syndrome
Health Risk
RS183501729
Pathogenic
Rotor syndrome, Rotor syndrome
Health Risk
RS71581941
Pathogenic
Rotor syndrome, SLCO1B1-related disorder, Rotor syndrome
Health Risk
Drug Interactions (2)
Simvastatin toxicity
strong
SLCO1B1*5 — increased risk of statin myopathy
Atorvastatin toxicity
moderate
SLCO1B1*5 — moderate myopathy risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS4149056 | Drug Response | drug response | Rotor syndrome, simvastatin acid response - Metabolism/PK, Gilbert syndrome |
| RS71581991 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, Rotor syndrome |
| RS763873797 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, Rotor syndrome |
| RS76647672 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, Rotor syndrome |
| RS79135870 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, Rotor syndrome |
| RS200994482 | Health Risk | Likely pathogenic | See cases, Hepatocellular carcinoma, Rotor syndrome |
| RS183501729 | Health Risk | Pathogenic | Rotor syndrome, Rotor syndrome |
| RS71581941 | Health Risk | Pathogenic | Rotor syndrome, SLCO1B1-related disorder, Rotor syndrome |