PMP22 Gene: Peripheral Myelin Protein 22
Key regulator of myelin formation and peripheral nerve function; mutations linked to Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Gene Information Card
| Symbol | PMP22 |
|---|---|
| Full Name | Peripheral Myelin Protein 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 5376 ncbi.nlm.nih.gov/gene/5376 |
| Ensembl ID | ENSG00000109099 |
| UniProt ID | Q01453 |
| OMIM ID | 601097 |
| HGNC ID | 9118 |
| Aliases | CMT1A, DSS, GAS-3, HMSN1A, HNPP, Sp110 |
Description
The PMP22 gene encodes a transmembrane glycoprotein that is a major component of compact myelin in the peripheral nervous system. It is critical for the formation and maintenance of myelin sheaths around axons. Duplications, deletions, or point mutations in PMP22 cause several inherited peripheral neuropathies, including Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 1A (CMT1A) | Duplication of PMP22 leads to overexpression and abnormal myelin structure | ClinVar, OMIM |
| Hereditary neuropathy with liability to pressure palsies (HNPP) | Deletion of PMP22 results in reduced protein levels and myelin instability | ClinVar, OMIM |
| Dejerine-Sottas syndrome (DSS) | Point mutations in PMP22 cause severe hypomyelination | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Peripheral nerve | 58.2 | High |
| Spinal cord | 12.1 | Medium |
| Brain | 5.3 | Low |
| Heart | 1.2 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Schwann cells (primary) | 45.0 | High expression; key for myelin production |
| HEK293 | 0.5 | Low expression; used for recombinant studies |
| SH-SY5Y | 1.2 | Low expression; neuronal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.353C>T (p.Thr118Met) | Missense | Rare | Alters protein trafficking; associated with CMT1A and HNPP |
| c.78G>A (p.Trp26Ter) | Nonsense | Rare | Loss of function; causes severe DSS |
| 17p12 duplication (1.4 Mb) | Copy number gain | Common in CMT1A | Overexpression leads to myelin instability |
| 17p12 deletion (1.4 Mb) | Copy number loss | Common in HNPP | Haploinsufficiency causes myelin vulnerability |
Mutation functional classification
Loss of Function (LOF)
Deletions or nonsense mutations (e.g., p.Trp26Ter) reduce PMP22 levels, leading to HNPP or DSS.
Gain of Function (GOF)
Duplications causing overexpression in CMT1A are considered a gain-of-function mechanism.
Dominant Negative (DN)
Some missense mutations (e.g., p.Thr118Met) produce defective protein that interferes with wild-type PMP22 function.
View complete mutation data：
Gene Ontology (GO)
| • signal transduction (GO:0007165) | • integral component of membrane (GO:0016021) |
| • myelination (GO:0042552) | • myelin sheath (GO:0043209) |
| • protein binding (GO:0005515) |
Pathways
• Myelin formation and maintenance
• Peripheral nervous system development
• Neurotrophin signaling pathway
Protein Summary
PMP22 is a 22 kDa transmembrane glycoprotein predominantly expressed in Schwann cells. It constitutes about 2-5% of total myelin protein and is essential for the compaction and stability of the myelin sheath. The protein has four transmembrane domains and is involved in cell adhesion, growth regulation, and apoptosis. Mutations affecting its expression or structure lead to peripheral neuropathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMP22 Knockout HEK293 Cell Line | EDJ-KQ5496 | Human | 5376 | Details Get a Quote |
| PMP22 Knockout A-549 Cell Line | EDJ-KQ28728 | Human | 5376 | Details Get a Quote |
| PMP22 Knockout HCT 116 Cell Line | EDJ-KQ28729 | Human | 5376 | Details Get a Quote |
| PMP22 Knockout HeLa Cell Line | EDJ-KQ28730 | Human | 5376 | Details Get a Quote |
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