Nukleopore-Protein 107
Das NUP107-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 11 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. |
Belgareh N et al. (2001) An evolutionarily conserved NPC subcomplex, which redistributes in part to kinetochores in mammalian cells.
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3. |
Boehmer T et al. (2003) Depletion of a single nucleoporin, Nup107, prevents the assembly of a subset of nucleoporins into the nuclear pore complex.
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4. |
Nagai S et al. (2008) Functional targeting of DNA damage to a nuclear pore-associated SUMO-dependent ubiquitin ligase.
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5. |
Zheng X et al. (2012) Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos.
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6. |
Miyake N et al. (2015) Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
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7. |
NCBI article
NCBI 57122
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8. |
OMIM.ORG article
Omim 607617
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9. |
Orphanet article
Orphanet ID 442980
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Update: 14. August 2020