NUP160-Gen
Das NUP160-Gen kodiert ein Protein welches zum Komplex der Poren in der Membran des Zellkerns gehört. Mutationen sind für das autosomal rezessive nephrotische Syndrom vom Typ 19 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Zuccolo M et al. (2007) The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions.
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2. |
Braun DA et al. (2018) Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
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3. |
Vasu S et al. (2001) Novel vertebrate nucleoporins Nup133 and Nup160 play a role in mRNA export.
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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.
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5. |
Mitchell JM et al. (2010) Pom121 links two essential subcomplexes of the nuclear pore complex core to the membrane.
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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.
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Update: 3. November 2022