Background:
This 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.[provided by RefSeq Jul 2008]