Death domain
| Death domain | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| CDD | cd01670 | ||||||||||
| |||||||||||
The death domain (DD) is a
Some DD-containing proteins are involved in the regulation of
The DD superfamily is one of the largest and most studied domain superfamilies. It currently comprises four subfamilies, the death domain (DD) subfamily, the death effector domain (DED) subfamily, the caspase recruitment domain (CARD) subfamily and the
Due to the large size of the death domain family protein superfamily, some death domain proteins may have a role to play in cancer and many other infections through several families of DD-proteins and specific gene alterations that have a downstream function to induce cell apoptosis. Many of these alterations occur in genes encoding mediators of apoptosis or
In addition to cancer, deregulation of death receptor protein signaling and death domain recruitment is seen to influence many other human diseases. Notably, the
Specifically, in ALPS, cell apoptosis that occurs via the CD95 pathway is found to be vital in controlling the proliferation of activated lymphocytes and regulating lymphocyte homeostasis. Notably, a two-point mutation that occurs at the A1009G and E256G sites can cause a defect in apoptotic pathways in people who have ALPS (Peters, 1999). Most patients with ALPS have mutations in the Fas gene and more than 70 mutations have been mapped to its intracellular DD.[9]