MPZ - Myelin protein zero Gene

Definition:Myelin protein zero

Official Symbol:MPZ

Chromosome:1


Gene Size: 5227 bp (159541151..159546377)



No Exons:6


Location : 1q23.3




Description:

MPZ gene codes for making a protein called myelin protein zero, it is found abundant in the myelin sheath, the covering that protects nerves and promotes the efficient transmission of nerve impulses, Schwann cells are the only cells that produces myelin protein zero, This protein is required for the proper formation and maintenance of myelin, it acts like a molecular glue (adhesion molecule) and plays a role in tightly packing the myelin.

Disease:

Mutations in MPZ gene causes disease like Autosomal dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies, More than 100 mutations in MPZ gene causes a form of Charcot-Marie-tooth known as type 1B,These mutations alter the extracellular domain by replacing one of the building blocks (amino acids) in the myelin protein zero with incorrect amino acid, the altered myelin protein zero probably cannot interact properly with other myelin components, which disrupts the formation and maintenance of the myelin sheath, As a result, peripheral nerve cells cannot activate muscles used for movement or relay information from sensory cells back to the brain, causing the signs and symptoms of type 1B Charcot-Marie-Tooth disease.