Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The XPO5 gene encodes a protein which is member of the karyopherin family. These proteins are responsible for transport of small RNAs and RNA-binding proteins from the nucleus to the cytoplasm. A missense mutation was described in association with congenital nephrotic syndrome. However an involment of this gene in the pathogenesis of nephrotic syndrome is not generally accepted.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Braun DA et al. (2016) Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 
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| 2. |
Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| 3. |
Brownawell AM et al. (2002) Exportin-5, a novel karyopherin, mediates nuclear export of double-stranded RNA binding proteins.
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| 4. |
Gwizdek C et al. (2003) Exportin-5 mediates nuclear export of minihelix-containing RNAs.
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| 5. |
Lund E et al. (2004) Nuclear export of microRNA precursors.
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| 6. |
Okada C et al. (2009) A high-resolution structure of the pre-microRNA nuclear export machinery.
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| 7. |
NCBI article NCBI 57510
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| 8. |
OMIM.ORG article Omim 607845
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| 9. |
Wikipedia article Wikipedia EN (XPO5)
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