PRX (Periaxin) Gene: Structure, Function, and Clinical Significance
Comprehensive guide to the PRX gene, encoding periaxin, a key protein in peripheral nerve myelination, with implications for Charcot-Marie-Tooth disease and Dejerine-Sottas syndrome.
Gene Information Card
| Symbol | PRX |
|---|---|
| Full Name | periaxin |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 57716 ncbi.nlm.nih.gov/gene/57716 |
| Ensembl ID | ENSG00000105227 |
| UniProt ID | Q9BXM0 |
| OMIM ID | 605725 |
| HGNC ID | 13797 |
| Aliases | CMT4F, DSN, FLJ16402, KIAA1620 |
Description
The PRX gene encodes periaxin, a protein essential for the maintenance of peripheral nerve myelination. Periaxin is a PDZ domain-containing protein expressed in Schwann cells, where it plays a critical role in stabilizing the myelin sheath and maintaining the integrity of the Schwann cell-axon unit. Mutations in PRX are associated with autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4F (CMT4F) and Dejerine-Sottas syndrome (DSN). The protein is involved in the formation of the periaxonal membrane and the regulation of myelin compaction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 4F (CMT4F) | Loss-of-function mutations in PRX lead to defective periaxin protein, causing impaired myelin sheath maintenance and demyelination. | ClinVar, OMIM |
| Dejerine-Sottas syndrome (DSN) | Biallelic mutations in PRX result in severe hypomyelination and peripheral neuropathy, often presenting in infancy. | ClinVar, OMIM |
| Charcot-Marie-Tooth disease (general) | PRX mutations are a rare cause of CMT, with autosomal recessive inheritance. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Peripheral nerve | High | High |
| Brain | Low | Low |
| Spinal cord | Low | Low |
| Testis | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Schwann cells | High | Primary site of expression |
| Fibroblasts | Low | Minimal expression |
| Lymphocytes | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.828C>A (p.Cys276Ter) | Nonsense | Rare | Loss of function, leading to truncated protein |
| c.1364_1365del (p.Glu455GlyfsTer3) | Frameshift | Rare | Loss of function, premature termination |
| c.2485C>T (p.Arg829Ter) | Nonsense | Rare | Loss of function, truncated protein |
| c.3226C>T (p.Arg1076Cys) | Missense | Rare | Potential dominant-negative effect, disrupts protein function |
Mutation functional classification
Loss of Function (LOF)
Most PRX mutations are loss-of-function, leading to reduced or absent periaxin protein, causing demyelination.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PRX.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect, but inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • PDZ domain binding |
| • cytoskeletal protein binding | • cell adhesion molecule binding |
| • myelin sheath | • Schwann cell differentiation |
| • peripheral nervous system development | • axon ensheathment |
Pathways
• Myelination pathway
• Schwann cell differentiation
• Cell junction organization
Protein Summary
Periaxin is a 1461-amino acid protein with a PDZ domain at the N-terminus, which mediates protein-protein interactions. It is localized to the periaxonal membrane of Schwann cells, where it links the myelin sheath to the cytoskeleton. Periaxin is essential for the maintenance of myelin stability and the proper formation of the Cajal bands, which are cytoplasmic channels in myelinating Schwann cells. Defects in periaxin lead to demyelinating neuropathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRXL2B Knockout HEK293 Cell Line | EDJ-KQ9028 | Human | 127281 | Details Get a Quote |
| PRXL2A Knockout HEK293 Cell Line | EDJ-KQ10055 | Human | 84293 | Details Get a Quote |
| PRX Knockout HEK293 Cell Line | EDJ-KQ14942 | Human | 57716 | Details Get a Quote |
| PRXL2C Knockout HEK293 Cell Line | EDJ-KQ14943 | Human | 195827 | Details Get a Quote |
| PRXL2A Knockout A-549 Cell Line | EDJ-KQ37092 | Human | 84293 | Details Get a Quote |
| PRXL2A Knockout HeLa Cell Line | EDJ-KQ37094 | Human | 84293 | Details Get a Quote |
| PRXL2C Knockout HCT 116 Cell Line | EDJ-KQ44140 | Human | 195827 | Details Get a Quote |
| PRXL2B Knockout HeLa Cell Line | EDJ-KQ34218 | Human | 127281 | Details Get a Quote |
| PRXL2B Knockout A-549 Cell Line | EDJ-KQ35468 | Human | 127281 | Details Get a Quote |
| PRXL2B Knockout HCT 116 Cell Line | EDJ-KQ35469 | Human | 127281 | Details Get a Quote |
| PRXL2A Knockout HCT 116 Cell Line | EDJ-KQ35869 | Human | 84293 | Details Get a Quote |
| PRX Knockout A-549 Cell Line | EDJ-KQ45396 | Human | 57716 | Details Get a Quote |
| PRX Knockout HCT 116 Cell Line | EDJ-KQ45397 | Human | 57716 | Details Get a Quote |
| PRXL2C Knockout A-549 Cell Line | EDJ-KQ45398 | Human | 195827 | Details Get a Quote |
| PRXL2C Knockout HeLa Cell Line | EDJ-KQ45399 | Human | 195827 | Details Get a Quote |
