MPZ Gene - Myelin Protein Zero
Key gene in peripheral nervous system myelination and Charcot-Marie-Tooth disease
Gene Information Card
| Symbol | MPZ |
|---|---|
| Full Name | Myelin Protein Zero |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 4359 ncbi.nlm.nih.gov/gene/4359 |
| Ensembl ID | ENSG00000158887 |
| UniProt ID | P25189 |
| OMIM ID | 159440 |
| HGNC ID | 7225 |
| Aliases | P0, CHN, CMT1B, CMT2I, CMT2J, DSS, MPP, HMSNIB |
Description
The MPZ gene encodes myelin protein zero (P0), a transmembrane glycoprotein that constitutes approximately 50% of total peripheral myelin protein. P0 is essential for the formation and maintenance of compact myelin in the peripheral nervous system. It functions as a homophilic adhesion molecule, mediating the compaction of myelin lamellae. Mutations in MPZ are associated with several peripheral neuropathies, including Charcot-Marie-Tooth disease type 1B (CMT1B), Dejerine-Sottas syndrome (DSS), and congenital hypomyelinating neuropathy (CHN).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 1B (CMT1B) | Loss of P0 adhesive function disrupts myelin compaction, leading to demyelinating neuropathy | ClinVar, OMIM |
| Dejerine-Sottas syndrome (DSS) | Severe loss-of-function or dominant-negative mutations cause profound hypomyelination | ClinVar, OMIM |
| Congenital hypomyelinating neuropathy (CHN) | Null or severe missense mutations prevent normal myelination from birth | ClinVar, OMIM |
| Charcot-Marie-Tooth disease type 2I (CMT2I) | Specific missense mutations cause axonal degeneration without prominent demyelination | ClinVar, OMIM |
| Charcot-Marie-Tooth disease type 2J (CMT2J) | Missense mutations in the cytoplasmic domain lead to axonal neuropathy with hearing loss | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Peripheral nerve | High | High |
| Sciatic nerve | High | High |
| Spinal cord | Low | Low |
| Brain | Not detected | Not detected |
| Liver | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Schwann cells (primary) | High | Major site of expression |
| SHSY5Y (neuroblastoma) | Low | Neuronal lineage |
| HEK293 | Not detected | Non-neural |
| HeLa | Not detected | Non-neural |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.293G>A (p.Arg98His) | Missense | Common in CMT1B | Disrupts adhesive function |
| c.407G>A (p.Arg136Trp) | Missense | Associated with CMT2I | Axonal degeneration |
| c.499C>T (p.Arg167Cys) | Missense | Found in DSS | Severe loss of adhesion |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein |
| c.698T>C (p.Leu233Pro) | Missense | Associated with CMT2J | Cytoplasmic domain defect |
Mutation functional classification
Loss of Function (LOF)
Null alleles (e.g., start loss, frameshift) cause congenital hypomyelinating neuropathy due to absence of P0.
Gain of Function (GOF)
Not typically described; most mutations are loss-of-function or dominant-negative.
Dominant Negative (DN)
Many missense mutations (e.g., Arg98His) act as dominant-negative by interfering with wild-type P0 adhesion, leading to CMT1B.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • axon ensheathment (GO:0008366) |
| • structural constituent of myelin sheath (GO:0019911) | • plasma membrane (GO:0005886) |
| • myelin sheath (GO:0043209) | • integral component of plasma membrane (GO:0005887) |
Pathways
• Myelination pathway (Reactome: R-HSA-9616222)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
Myelin protein zero (P0) is a 248-amino-acid transmembrane glycoprotein with a single extracellular immunoglobulin-like domain, a transmembrane segment, and a cytoplasmic tail. It forms homotetramers that mediate adhesion between adjacent myelin lamellae, essential for compact myelin formation. P0 is exclusively expressed in Schwann cells of the peripheral nervous system. Its extracellular domain mediates homophilic adhesion, while the cytoplasmic domain interacts with the cytoskeleton. Mutations in MPZ disrupt these interactions, leading to a spectrum of peripheral neuropathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPZL1 Knockout HEK293 Cell Line | EDJ-KQ2422 | Human | 9019 | Details Get a Quote |
| MPZL2 Knockout HEK293 Cell Line | EDJ-KQ6314 | Human | 10205 | Details Get a Quote |
| MPZL3 Knockout HEK293 Cell Line | EDJ-KQ14294 | Human | 196264 | Details Get a Quote |
| MPZL3 Knockout A-549 Cell Line | EDJ-KQ44352 | Human | 196264 | Details Get a Quote |
| MPZL3 Knockout HCT 116 Cell Line | EDJ-KQ44353 | Human | 196264 | Details Get a Quote |
| MPZL3 Knockout HeLa Cell Line | EDJ-KQ44354 | Human | 196264 | Details Get a Quote |
| MPZL1 Knockout A-549 Cell Line | EDJ-KQ24301 | Human | 9019 | Details Get a Quote |
| MPZL1 Knockout HCT 116 Cell Line | EDJ-KQ24302 | Human | 9019 | Details Get a Quote |
| MPZL1 Knockout HeLa Cell Line | EDJ-KQ24303 | Human | 9019 | Details Get a Quote |
| MPZL2 Knockout HCT 116 Cell Line | EDJ-KQ31611 | Human | 10205 | Details Get a Quote |
| MPZL2 Knockout HeLa Cell Line | EDJ-KQ31612 | Human | 10205 | Details Get a Quote |
| MPZ Knockout HEK293 Cell Line | EDJ-KQ50446 | Human | 4359 | Details Get a Quote |
| MPZ Knockout HeLa Cell Line | EDJ-KQ53900 | Human | 4359 | Details Get a Quote |
| MPZ Knockout A-549 Cell Line | EDJ-KQ62391 | Human | 4359 | Details Get a Quote |
| MPZL2 Knockout A-549 Cell Line | EDJ-KQ63825 | Human | 10205 | Details Get a Quote |
