The UNC13D gene provides instructions for making a protein that is involved in the process of cell destruction (cytolysis) and the regulation of the immune system.
The UNC13D protein is involved in the release of substances from cells (exocytosis). In particular, it is important for the exocytosis of structures called cytolytic granules from immune cells called T cells and NK cells. T cells and NK cells destroy other cells by secreting these cytolytic granules, which contain cell-killing proteins, onto the membranes of the target cells. The UNC13D protein helps transport these granules to the membrane of the target cell, allowing cytolytic proteins to enter the cell and trigger it to self-destruct.
This cytolytic mechanism also helps regulate the immune system by destroying unneeded T cells. Controlling the number of T cells prevents the overproduction of immune proteins called cytokines that lead to inflammation and which, in excess, cause tissue damage.
Other Names
FHL3; HLH3; HPLH3; Munc13-4; UN13D_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 201294
- OMIM: 604302
- OMIM: 608897
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
