Anionenstransporter der Familie 1B1
Das SLCO1B1-Gen kodiert einen Anionentransporter in der Leber. Mutationen sind mit einer digenischen Hyperbilirubinämie (zusammen mit Mutationen im SLCO1B3) und mit einer Stainunverträglichkeit assoziiert.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
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11. |
NCBI article
NCBI 10599
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12. |
OMIM.ORG article
Omim 604843
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Update: 14. August 2020