Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The NUP160 gene encodes a protein, nuclear pore complex protein Nup160, that is invoved in formation of pores in the membrane of the nucleus. Mutations cause autosomal recessive Congenital nephrotic syndrome type 19.
| 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. |
Zuccolo M et al. (2007) The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions. 
|
| 2. |
Braun DA et al. (2018) Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
|
| 3. |
Vasu S et al. (2001) Novel vertebrate nucleoporins Nup133 and Nup160 play a role in mRNA export.
|
| 4. |
Nagase T et al. (1996) Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.
|
| 5. |
Mitchell JM et al. (2010) Pom121 links two essential subcomplexes of the nuclear pore complex core to the membrane.
|
| 6. |
Wang P et al. (2018) Knockdown of NUP160 inhibits cell proliferation, induces apoptosis, autophagy and cell migration, and alters the expression and localization of podocyte associated molecules in mouse podocytes.
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
