Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
| 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. |
König J et al. (2000) Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide.
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| 3. |
Mikkaichi T et al. (2004) Isolation and characterization of a digoxin transporter and its rat homologue expressed in the kidney.
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| 4. |
NCBI article NCBI 28234
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| 5. |
OMIM.ORG article Omim 605495
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| 6. |
Orphanet article Orphanet ID 292437
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| 7. |
Wikipedia article Wikipedia EN (SLCO1B3)
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