DescriptionThis gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder.
|Immunohistochemistry (Paraffin), Immunoprecipitation, Western Blot|
|PBS with 50% glycerol and 0.02% sodium azide; pH 7.3|
|Antigen Affinity Chromatography|
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