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.
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Protein Aliases: munc 13-4; Munc13-4; Protein unc-13 homolog D
Gene Aliases: FHL3; HLH3; HPLH3; Munc13-4; UNC13D
UniProt ID: (Human) Q70J99
Entrez Gene ID: (Human) 201294