Protein UNC-13 homolog D
The UNC13D gene encodes a protein which is involved in maturation of vesicles and exocytosis. Mutations result in autosomal recessive familial hemophagocytic lymphohistiocytosis 3.
Genetests:
Related Diseases:
References:
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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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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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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: Aug. 14, 2020