MPZL3

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Description

The MPZL3 gene, also known as Myelin Protein Zero-Like 3, plays a crucial role in the development and maintenance of the peripheral nervous system. This gene provides instructions for creating a protein that is essential for forming the myelin sheath, a fatty substance that insulates nerve fibers, enabling rapid and efficient transmission of nerve impulses. Mutations in the MPZL3 gene can disrupt myelin formation, leading to a range of neurological disorders characterized by impaired nerve function.

Associated Diseases

• Charcot-Marie-Tooth disease type 1F (CMT1F)
• Dejerine-Sottas syndrome (DSS)
• Hereditary neuropathy with liability to pressure palsies (HNPP)

Did you know?

Mutations in MPZL3 can result in a wide spectrum of disease severity, ranging from mild to severe nerve dysfunction.