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Solute carrier organic anion transporter family member 1B3

The SLCO1B3 gene encodes an anion transporter expressed in liver cells where it is responsible for the uptake of solutes. Mutations are associated with digenic Rotor type hyperbilirubinemia together with mutations in gene SLCO1B1.

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

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.

external link
2.

König J et al. (2000) Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide.

external link
3.

Mikkaichi T et al. (2004) Isolation and characterization of a digoxin transporter and its rat homologue expressed in the kidney.

external link
4.

NCBI article

NCBI 28234 external link
5.

OMIM.ORG article

Omim 605495 external link
6.

Orphanet article

Orphanet ID 292437 external link
7.

Wikipedia article

Wikipedia EN (SLCO1B3) external link
Update: Aug. 14, 2020
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