| Background |
This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017] |
| Cellular Location |
Cytolytic granule.
Secreted.
Cell membraneMulti-pass membrane protein.
Endosome lumen.
Note: Stored in cytolytic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell (PubMed:20038786).
Inserts into the cell membrane of target cells and forms pores (PubMed:20889983).
Membrane insertion and pore formation requires a major conformation change (PubMed:20889983).
May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes (PubMed:20038786). |
| Tissue Location |
Group enriched (Bone marrow, Lung, Lymphoid tissue) |