SH3TC2

Description

The SH3TC2 (SH3 domain and tetratricopeptide repeats 2) is a protein-coding gene located on chromosome 5.

SH3TC2 is a protein encoded by the SH3TC2 gene in humans. It is primarily expressed in Schwann cells and is believed to be involved in the formation and maintenance of the myelin sheath around nerve fibers. The protein contains two SH3 domains, which are known for their role in protein-protein interactions, and ten TPR motifs, which are typically involved in binding to other proteins. This suggests that SH3TC2 might act as an adapter or docking molecule, facilitating interactions between different proteins within the cell. Mutations in the SH3TC2 gene have been linked to various neurological disorders, including Charcot-Marie-Tooth disease type 4C, a debilitating condition affecting the peripheral nerves, and Mononeuropathy of the median nerve (MNMN), which affects the median nerve at the wrist.

SH3TC2 is also known as CMT4C, MNMN.

Associated Diseases

• Charcot-Marie-Tooth disease, type 4C
• Mononeuropathy of the median nerve, mild
• Charcot-Marie-Tooth disease type 4C