PMP22 : peripheral myelin protein 22

Description

The PMP22 gene, located on chromosome 17, provides instructions for making a protein called peripheral myelin protein 22. This protein is crucial for the formation and maintenance of myelin, a fatty substance that insulates nerve fibers and allows for rapid electrical signal transmission. Myelin is essential for proper nerve function, particularly in the peripheral nervous system, which controls voluntary movements, sensations, and bodily functions. Mutations in the PMP22 gene can lead to a range of nerve disorders, affecting the ability of the nervous system to communicate effectively.

Associated Diseases

• Charcot-Marie-Tooth disease type 1A (CMT1A)
• Dejerine-Sottas syndrome (DSS)
• Hereditary neuropathy with liability to pressure palsies (HNPP)

Did you know?

Mutations in the PMP22 gene can either increase or decrease the amount of PMP22 protein produced, leading to different types of nerve disorders.