NUP85-Gen
Das NUP85-Gen kodiert ein Protein, welches an der Bildung von Poren in der Membran des Zellkerns und bei der Signaltransduktion von Immunprozessen beteiligt ist. Mutationen sind für das autosomal rezessive nephrotische Syndrom vom Typ 17 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Doxsey SJ et al. (1994) Pericentrin, a highly conserved centrosome protein involved in microtubule organization.
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2. |
Cronshaw JM et al. (2002) Proteomic analysis of the mammalian nuclear pore complex.
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3. |
Loïodice I et al. (2004) The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis.
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4. |
Terashima Y et al. (2005) Pivotal function for cytoplasmic protein FROUNT in CCR2-mediated monocyte chemotaxis.
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5. |
Zuccolo M et al. (2007) The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions.
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6. |
Brohawn SG et al. (2008) Structural evidence for common ancestry of the nuclear pore complex and vesicle coats.
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7. |
Toda E et al. (2009) FROUNT is a common regulator of CCR2 and CCR5 signaling to control directional migration.
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8. |
Braun DA et al. (2018) Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
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Update: 3. November 2022