| PMP22 — Peripheral Myelin Protein 22 | |
|---|---|
| Symbol | PMP22 |
| Full Name | Peripheral Myelin Protein 22 |
| Chromosome | 17p12 |
| NCBI Gene | 537 |
| Ensembl | ENSG00000109099 |
| OMIM | 601097 |
| UniProt | P60265 |
| Diseases | Charcot-Marie-Tooth Disease Type 1A, Hereditary Neuropathy with Liability to Pressure Palsies |
| Expression | Peripheral nervous system, Schwann cells |
Pmp22 — Peripheral Myelin Protein 22 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
PMP22 (Peripheral Myelin Protein 22) is a gene located on chromosome 17p12 that is critical for peripheral nerve myelination. Mutations in PMP22 are the most common cause of Charcot-Marie-Tooth Disease (CMT1A), the most prevalent inherited peripheral neuropathy. The gene is catalogued as NCBI Gene ID 537 and OMIM 601097.
The PMP22 gene encodes a 22-kDa tetraspan membrane protein that is a major component of peripheral nerve myelin. It comprises approximately 2-5% of total myelin protein and plays a critical role in maintaining myelin structure and function.
PMP22 is predominantly expressed in:
CMT1A is caused by a duplication of the PMP22 gene (17p12), leading to overexpression of the protein. This is the most common form of CMT, accounting for approximately 50% of all cases.
HNPP is caused by a deletion of the PMP22 gene, resulting in haploinsufficiency.
Severe PMP22 mutations can cause DSS, a severe form of peripheral neuropathy with early onset.
Understanding PMP22 function has led to therapeutic strategies including:
The study of Pmp22 — Peripheral Myelin Protein 22 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Page auto-generated from NeuroWiki gene database. Last updated: 2026-03-05.