PMP22 — Peripheral Myelin Protein 22
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">PMP22 — Peripheral Myelin Protein 22</th>
</tr>
<tr> [@hereditary2018]
<td class="label">Symbol</td> [@ncbi]
<td><strong>PMP22</strong></td> [@omim]
</tr> [@uniprot]
<tr>
<td class="label">Full Name</td>
<td>Peripheral Myelin Protein 22</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>17p12</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/537" target="_blank">537</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109099" target="_blank">ENSG00000109099</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/601097" target="_blank">601097</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/P60265" target="_blank">P60265</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Charcot-Marie-Tooth Disease Type 1A](/diseases/charcot-marie-tooth), [Hereditary Neuropathy with Liability to Pressure Palsies](/diseases/hereditary-neuropathy-pressure-palsy)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Peripheral nervous system, Schwann cells</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/dementia" style="color:#e
...PMP22 — Peripheral Myelin Protein 22
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">PMP22 — Peripheral Myelin Protein 22</th>
</tr>
<tr> [@hereditary2018]
<td class="label">Symbol</td> [@ncbi]
<td><strong>PMP22</strong></td> [@omim]
</tr> [@uniprot]
<tr>
<td class="label">Full Name</td>
<td>Peripheral Myelin Protein 22</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>17p12</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/537" target="_blank">537</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109099" target="_blank">ENSG00000109099</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/601097" target="_blank">601097</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/P60265" target="_blank">P60265</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Charcot-Marie-Tooth Disease Type 1A](/diseases/charcot-marie-tooth), [Hereditary Neuropathy with Liability to Pressure Palsies](/diseases/hereditary-neuropathy-pressure-palsy)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Peripheral nervous system, Schwann cells</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/dementia" style="color:#ef9a9a">Dementia</a>, <a href="/wiki/neuropathy" style="color:#ef9a9a">Neuropathy</a>, <a href="/wiki/parkinson" style="color:#ef9a9a">Parkinson</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">23 edges</a></td>
</tr>
</table>
PMP22 — Peripheral Myelin Protein 22
Introduction
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.
Overview
Mermaid diagram (expand to render)
PMP22 ([Peripheral Myelin Protein 22](/proteins/pmp22-protein)) 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](/diseases/charcot-marie-tooth-disease) (CMT1A), the most prevalent inherited peripheral neuropathy. The gene is catalogued as NCBI Gene ID [537](https://www.ncbi.nlm.nih.gov/gene/537) and OMIM [601097](https://omim.org/entry/601097).
Function
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.
Normal Function in Peripheral Nervous System
- Myelin Formation: PMP22 is synthesized by Schwann cells and incorporated into the myelin sheath
- Compact Myelin Structure: The protein contributes to the formation of the intraperiod line of myelin
- Schwann Cell Development: Essential for proper Schwann cell differentiation and myelination
- Peripheral Nerve Conduction: Critical for maintaining fast nerve conduction velocities
Expression Pattern
PMP22 is predominantly expressed in:
- Peripheral nervous system Schwann cells
- Dorsal root ganglia
- Peripheral nerves
Disease Associations
Charcot-Marie-Tooth Disease Type 1A (CMT1A)
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.
- Inheritance: Autosomal dominant
- Onset: Adolescence to early adulthood
- Features:
- Distal muscle weakness and atrophy
- Sensory loss
- Foot deformities (pes cavus, hammertoes)
- Reduced nerve conduction velocities
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
HNPP is caused by a deletion of the PMP22 gene, resulting in haploinsufficiency.
- Inheritance: Autosomal dominant
- Features:
- Recurrent focal neuropathies at pressure sites
- Temporary weakness and sensory loss
- "Tombstone" pedunculated nails on neuroimaging
Dejerine-Sottas Syndrome (DSS)
Severe PMP22 mutations can cause DSS, a severe form of peripheral neuropathy with early onset.
Therapeutic Implications
Understanding PMP22 function has led to therapeutic strategies including:
- Gene Silencing: ASO (antisense oligonucleotide) therapies targeting PMP22 overexpression
- Small Molecule Approaches: Drugs that modulate PMP22 expression
- Gene Therapy: Experimental approaches to correct PMP22 mutations
- Physical Therapy: Supportive care for maintaining muscle function
Key Publications
[The peripheral myelin protein 22 gene and Charcot-Marie-Tooth disease type 1A](https://doi.org/10.1093/brain/awx313). Brain, 2017.
[PMP22: the magic widget of Charcot-Marie-Tooth disease](https://doi.org/10.1016/j.tins.2019.08.001). Trends in Neurosciences, 2019.
[Charcot-Marie-Tooth disease type 1A](https://doi.org/10.1016/S1474-4422(18)30328-3). Lancet Neurology, 2018.
[ASO-based reduction of PMP22 attenuates demyelination and improves neuropathy phenotypes](https://doi.org/10.1093/brain/awz380). Brain, 2019.
[Hereditary neuropathy with liability to pressure palsies](https://doi.org/10.1212/WNL.0000000000006577). Neurology, 2018.
External Links
- NCBI Gene: [https://www.ncbi.nlm.nih.gov/gene/537](https://www.ncbi.nlm.nih.gov/gene/537)
- Ensembl: [https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109099](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109099)
- OMIM: [https://omim.org/entry/601097](https://omim.org/entry/601097)
- UniProt: [https://www.uniprot.org/uniprot/P60265](https://www.uniprot.org/uniprot/P60265)
See Also
- [Genes Index](/genes)
- [Proteins Index](/proteins)
- [Charcot-Marie-Tooth Disease](/diseases/charcot-marie-tooth-disease)
- [Peripheral Nervous System](/entities/peripheral-nervous-system)
Background
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.
References
[Unknown, The peripheral myelin protein 22 gene and Charcot-Marie-Tooth disease type 1A (2017)](https://doi.org/10.1093/brain/awx313)
[Unknown, PMP22: the magic widget of Charcot-Marie-Tooth disease (2019)](https://doi.org/10.1016/j.tins.2019.08.001)
[Unknown, Charcot-Marie-Tooth disease type 1A (2018)](https://doi.org/10.1016/S1474-4422(18)
[Unknown, ASO-based reduction of PMP22 attenuates demyelination and improves neuropathy phenotypes (2019)](https://doi.org/10.1093/brain/awz380)
[Unknown, Hereditary neuropathy with liability to pressure palsies (2018)](https://doi.org/10.1212/WNL.0000000000006577)
NCBI Gene:, PMP22 (n.d.)
OMIM:, 601097 (n.d.)
UniProt:, P60265 (n.d.)Pathway Diagram
The following diagram shows the key molecular relationships involving PMP22 — Peripheral Myelin Protein 22 discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)