9la9

Structural highlights

Disease

UN13D_HUMAN Familial hemophagocytic lymphohistiocytosis. The disease is caused by variants affecting the gene represented in this entry.

Function

UN13D_HUMAN 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.^{[1] [2]}

References

1. ↑ Neeft M, Wieffer M, de Jong AS, Negroiu G, Metz CH, van Loon A, Griffith J, Krijgsveld J, Wulffraat N, Koch H, Heck AJ, Brose N, Kleijmeer M, van der Sluijs P. Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells. Mol Biol Cell. 2005 Feb;16(2):731-41. PMID:15548590 doi:10.1091/mbc.e04-10-0923
2. ↑ Ménager MM, Ménasché G, Romao M, Knapnougel P, Ho CH, Garfa M, Raposo G, Feldmann J, Fischer A, de Saint Basile G. Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. Nat Immunol. 2007 Mar;8(3):257-67. PMID:17237785 doi:10.1038/ni1431