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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial hemophagocytic lymphohistiocytosis 3
UNC13D

References:

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: Aug. 14, 2020
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