SH3 domain and tetratricopeptide repeats 2
The SH3TC2 gene is active in the nervous system and provides instructions for making a protein whose function is unknown. Based on its structure, the SH3TC2 protein probably interacts with other proteins and may assist in assembling proteins into a group or complex.
Researchers have identified at least 19 SH3TC2 gene mutations that cause a form of Charcot-Marie-Tooth disease known as type 4C. Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.
Most of the SH3TC2 gene mutations that cause Charcot-Marie-Tooth disease disrupt production of the SH3TC2 protein, resulting in an abnormally short or unstable version of this protein. Some mutations change one of the building blocks (amino acids) used to make the SH3TC2 protein, which alters the protein's structure. It is unclear how SH3TC2 gene mutations cause the signs and symptoms of type 4C Charcot-Marie-Tooth disease.