Protein UNC-13-Homolog D
Das UNC13D-Gen kodiert ein Protein, welches bei der Reifung von Vesikeln und der Exozytose eine Rolle spielt. Mutationen führen zur autosomal rezessiven familiären hämophygozytischen Lymphohistiozytose 3.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Zur Stadt U et al. (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
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2. |
Feldmann J et al. (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
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3. |
Shirakawa R et al. (2004) Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets.
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4. |
Santoro A et al. (2006) Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.
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5. |
Crozat K et al. (2007) Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis.
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6. |
Ren Q et al. (2010) Munc13-4 is a limiting factor in the pathway required for platelet granule release and hemostasis.
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Update: 14. August 2020