Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Solute carrier organic anion transporter family member 1B1

The SLCO1B1 gene encodes an anion transporter expressed in liver cells where it is responsible for the uptake of solutes including medicaments such as statins. Mutations are associated with digenic Rotor type hyperbilirubinemia ( together with mutations in gene SLCO1B3) and statin intolerance.

Genetests:

Research Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Rotor type hyperbilirubinemia
SLCO1B1
SLCO1B3
Statin intolerance
SLCO1B1

References:

1.

Abe T et. al. (1999) Identification of a novel gene family encoding human liver-specific organic anion transporter LST-1.

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2.

König J et. al. (2000) A novel human organic anion transporting polypeptide localized to the basolateral hepatocyte membrane.

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3.

Tamai I et. al. (2000) Molecular identification and characterization of novel members of the human organic anion transporter (OATP) family.

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4.

Michalski C et. al. (2002) A naturally occurring mutation in the SLC21A6 gene causing impaired membrane localization of the hepatocyte uptake transporter.

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5.

Wang P et. al. (2003) The human organic anion transport protein SLC21A6 is not sufficient for bilirubin transport.

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6.

Takane H et. al. (2006) Pharmacogenetic determinants of variability in lipid-lowering response to pravastatin therapy.

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7.

et. al. (2008) SLCO1B1 variants and statin-induced myopathy--a genomewide study.

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8.

Weiner M et. al. (2010) Effects of tuberculosis, race, and human gene SLCO1B1 polymorphisms on rifampin concentrations.

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9.

van de Steeg E et. al. (2012) Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

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Update: Sept. 26, 2018