TNFSF gene family

Genes in the tumor necrosis factor superfamily (TNFSF) provide instructions for making proteins that are involved in a variety of cellular functions. The first proteins grouped in this family were called tumor necrosis factors because of their ability to kill tumor cells. As other proteins were found to have similar structures, it was recognized that the TNFSF genes are also important regulators of inflammation, controlled cell death (apoptosis), the immune system, and the formation of tissues and organs during embryonic development (organogenesis).

TNFSF proteins are ligands, which means they can attach (bind) to other proteins called receptors. A ligand and its receptor fit together like a key in a lock. TNFSF proteins bind with members of the tumor necrosis factor receptor superfamily (TNFRSF). Depending on which proteins are involved, this binding triggers a series of chemical signals that instruct cells to grow and divide, self-destruct, or mature and take on specialized functions. Disorders caused by mutations in TNFSF genes all involve abnormal cell signaling resulting from a ligand that cannot properly interact with its receptor.