PRPH (Peripherin) Gene
Neuronal Intermediate Filament Gene in Amyotrophic Lateral Sclerosis and Neurodegeneration
Gene Information Card
| Symbol | PRPH |
|---|---|
| Full Name | Peripherin |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 5630 ncbi.nlm.nih.gov/gene/5630 |
| Ensembl ID | ENSG00000135406 |
| UniProt ID | P41219 |
| OMIM ID | 170710 |
| HGNC ID | 9461 |
| Aliases | NEF4, PRPH1 |
Description
The PRPH gene encodes peripherin, a type III neuronal intermediate filament protein expressed primarily in the peripheral nervous system and some central neurons. Peripherin is involved in axonal growth, cytoskeletal integrity, and neuronal differentiation. Mutations and aberrant aggregation of peripherin are associated with amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Mutations in PRPH lead to altered filament assembly and aggregation, contributing to motor neuron degeneration. | ClinVar, OMIM |
| Neuronal Intermediate Filament Inclusion Disease | Accumulation of peripherin aggregates in neuronal cytoplasm disrupts axonal transport. | UniProt, PubMed |
| Peripheral Neuropathy | Dysregulation of peripherin expression impairs axonal maintenance and regeneration. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Peripheral nerve | 12.5 | Medium |
| Spinal cord | 8.3 | Low |
| Brain (cerebellum) | 5.1 | Low |
| Skeletal muscle | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U-87 MG (glioblastoma) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.151G>A (p.Glu51Lys) | Missense | <0.1% | Alters filament assembly; associated with ALS |
| c.413C>T (p.Pro138Leu) | Missense | <0.1% | Reduced solubility; promotes aggregation |
| c.698G>A (p.Arg233His) | Missense | <0.1% | Disrupts intermediate filament network |
Mutation functional classification
Loss of Function (LOF)
Some missense mutations impair filament polymerization, reducing structural support in axons.
Gain of Function (GOF)
Mutant peripherin forms toxic aggregates that sequester other proteins and impair cellular function.
Dominant Negative (DN)
Mutant peripherin interferes with wild-type filament assembly, leading to dominant-negative effects on cytoskeletal integrity.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity | • intermediate filament cytoskeleton organization |
| • axon development | • neuron projection morphogenesis |
| • protein binding |
Pathways
• Intermediate filament organization
• Axonal transport
• Neurofilament bundle assembly
Protein Summary
Peripherin is a 57 kDa type III intermediate filament protein that forms homopolymers and heteropolymers with neurofilament proteins. It is essential for maintaining axonal caliber and stability. In disease states, peripherin aggregates are a hallmark of ALS and related motor neuron disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRPH2 Knockout HEK293 Cell Line | EDJ-KQ4900 | Human | 5961 | Details Get a Quote |
| PRPH Knockout HEK293 Cell Line | EDJ-KQ5547 | Human | 5630 | Details Get a Quote |
| PRPH Knockout A-549 Cell Line | EDJ-KQ27552 | Human | 5630 | Details Get a Quote |
| PRPH Knockout HCT 116 Cell Line | EDJ-KQ28805 | Human | 5630 | Details Get a Quote |
| PRPH Knockout HeLa Cell Line | EDJ-KQ28806 | Human | 5630 | Details Get a Quote |
| PRPH2 Knockout HeLa Cell Line | EDJ-KQ54306 | Human | 5961 | Details Get a Quote |
| PRPH2 Knockout A-549 Cell Line | EDJ-KQ62800 | Human | 5961 | Details Get a Quote |
| PRPH2 Knockout HCT 116 Cell Line | EDJ-KQ71266 | Human | 5961 | Details Get a Quote |
| PRPH2 Overexpression HEK293T Stable Cell Line | EDC90339 | Human | 5961 | Details Get a Quote |
