Aliases for UNC13D Gene
External Ids for UNC13D Gene
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]
GeneCards Summary for UNC13D Gene
UNC13D (Unc-13 Homolog D (C. Elegans)) is a Protein Coding gene. Diseases associated with UNC13D include hemophagocytic lymphohistiocytosis and griscelli syndrome, type 2. Among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. An important paralog of this gene is BAIAP3.
UniProtKB/Swiss-Prot for UNC13D Gene
Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells.