Recombinant protein encompassing a sequence within the N-terminus region of human Munc 13-4. The exact sequence is proprietary.
Alternative Names:
FHL3, HLH3, HPLH3, Munc13-4
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.