LITAF

The LITAF gene (sometimes referred to as SIMPLE) provides instructions for making a protein called lipopolysaccharide-induced tumor necrosis factor-alpha factor. The role of this protein is unclear, but two functions have been proposed. The LITAF protein probably plays a role in processes that fight infection and destroy unwanted cells. Specifically, this protein is thought to activate the production of an infection-fighting substance called tumor necrosis factor-alpha. Tumor necrosis factor-alpha may also participate in the destruction of cancer cells. Another function of the LITAF protein was proposed on the basis of its cellular location. It is found in the membrane surrounding lysosomes, the saclike compartments in cells that are filled with enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components. The LITAF protein may participate in the breakdown of proteins and other substances.

Charcot-Marie-Tooth disease - caused by mutations in the LITAF gene

A form of Charcot-Marie-Tooth disease known as type 1C is caused by one of several mutations in the LITAF gene. Each mutation changes a single DNA building block (base pair), which alters the instructions for making the LITAF protein. It is unclear how these mutations lead to type 1C Charcot-Marie-Tooth disease. The protein made by the altered instructions may mistakenly degrade proteins that are critical for nerve function. Another possibility is that the altered LITAF protein cannot destroy substances that are toxic to nerve cells.