Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Rotor type hyperbilirubinemia
SLCO1B1
SLCO1B3
Statin intolerance
SLCO1B1

References:

1.

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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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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

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8.

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

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9.

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

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10.

Orphanet article

Orphanet ID 241999 external link
11.

NCBI article

NCBI 10599 external link
12.

OMIM.ORG article

Omim 604843 external link
13.

Wikipedia article

Wikipedia EN (SLCO1B1) external link
Update: Aug. 14, 2020
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