Nukleopore-Protein 205
Das NUP205-Gen kodiert ein Nukleopore-Protein. Die Nukleopore-Proteine ermöglichen den Stoffaustausch zwischen Zellkern und Zytoplasma. Dies betrifft vor allem die RNAs, die den Zellkern verlassen und die Proteine die in den Zellkern gelangen müssen. Mutationen sind für das kongenitale nephrotische Syndrom 13 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nagase T et al. (1996) Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.
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2. |
Braun DA et al. (2016) Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
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3. |
Grandi P et al. (1997) Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly.
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4. |
Miller BR et al. (2000) Identification of a new vertebrate nucleoporin, Nup188, with the use of a novel organelle trap assay.
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5. |
Hawryluk-Gara LA et al. (2005) Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex.
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6. |
NCBI article
NCBI 23165
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7. |
OMIM.ORG article
Omim 614352
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8. |
Orphanet article
Orphanet ID 456828
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Update: 14. August 2020