Syntaxin-Bindungsprotein 2
Das STXBP2-Gen kodiert ein Protein, welches beim intrazellulären Subtrattransport eine Rolle spielt. Mutationen führen zur autosomal rezessiven familiären hämophygozytischen Lymphohistiozytose 5.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Ziegler SF et al. (1996) Molecular characterization of a nonneuronal human UNC18 homolog.
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2. |
Sparber-Sauer M et al. (2009) Patients with early relapse of primary hemophagocytic syndromes or with persistent CNS involvement may benefit from immediate hematopoietic stem cell transplantation.
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3. |
Beutel K et al. (2009) Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin.
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4. |
zur Stadt U et al. (2009) Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
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5. |
Côte M et al. (2009) Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
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6. |
Cetica V et al. (2010) STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
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Update: 14. August 2020