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Syntaxin-binding protein 2

The STXBP2 gene encodes a protein which is involved in intracellular transport. 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

Related Diseases:

Familial hemophagocytic lymphohistiocytosis 5
STXBP2

References:

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: Aug. 14, 2020
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