TNFRSF gene family

Genes in the tumor necrosis factor receptor superfamily (TNFRSF) provide instructions for making proteins that are involved in a variety of cellular functions. TNFRSF proteins are receptors that span the cell membrane, so that one end of the protein projects from the outer surface of the cell and the other end remains inside the cell. This structure allows the receptors to relay chemical signals from outside the cell to the interior of the cell.

Receptors in the TNFRSF family attach (bind) to a group of proteins known as tumor necrosis factors (TNFs) on the surface of cells. This binding triggers a series of chemical signals that can instruct cells to grow and divide, self-destruct (undergo apoptosis), or mature and take on specialized functions. TNFRSF receptors are found primarily on immune system cells, where they act as critical regulators of the body's immune responses and inflammatory reactions. These receptors also play important roles in the formation of tissues and organs during embryonic development (organogenesis). The receptors produced from two particular genes in this family, TNFRSF11A and TNFRSF11B, are involved in bone remodeling, the normal process by which old bone is broken down and new bone is created to replace it.

Studies suggest that changes in TNFRSF genes are associated with some autoimmune and chronic inflammatory diseases, such as lupus and rheumatoid arthritis. Mutations in the TNFRSF11A and TNFRSF11B genes are responsible for several rare bone diseases characterized by abnormal bone remodeling.