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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRPH
peripherin
Chromosome 12 · 12q13.12
NCBI Gene: 5630Ensembl: ENSG00000135406.15HGNC: HGNC:9461UniProt: B3KWQ6
78PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneprotein bindingextracellular exosomeaxonamyotrophic lateral sclerosisfamilial amyotrophic lateral sclerosissporadic amyotrophic lateral sclerosisprostate carcinoma
✦AI Summary

PRPH (peripherin) is a class-III neuronal intermediate filament protein primarily expressed in the peripheral nervous system that functions as a structural component of the neuronal cytoskeleton 1. PRPH can form independent filamentous networks or cooperate with other neurofilament proteins (NEFL, NEFH, NEFM, and INA) to establish the cytoskeletal architecture essential for axonal integrity 2. The gene contains conserved regulatory elements including nerve growth factor response elements and heat shock elements, suggesting tissue- and injury-specific expression control 2. PRPH plays critical roles in peripheral nervous system development, axon elongation, and regeneration following injury, while paradoxically inhibiting neurite extension in cochlear spiral ganglion neurons 3. Recent evidence indicates PRPH serves as an early biomarker for motor neuron disease; plasma PRPH levels are significantly elevated in amyotrophic lateral sclerosis (ALS) and other motor neuron diseases, correlating with disease progression and survival 4. PRPH also emerges as a biomarker for traumatic axonal injury, with elevated levels in cerebrospinal fluid and plasma following traumatic brain injury, reflecting cytoskeletal damage 5. Changes in PRPH mRNA transport in peripheral nerves have been observed in diabetic peripheral neuropathy, suggesting perturbations in axonal RNA localization contribute to neurodegeneration 6. These findings position PRPH as both structurally essential and clinically relevant for diagnosing and prognosticating neurodegenerative pathologies.

Sources cited
1
PRPH gene structure (9 exons, 8 introns) and identification of regulatory elements including NGF-responsive elements, Hox binding sites, and heat shock elements
PMID: 7806235
2
PRPH is a neurofilament isoform and validated biomarker for neurodegenerative pathology with mutations in ALS and other neurodegenerative diseases
PMID: 35950263
3
PRPH is one of eight genes directly regulating cytoskeletal function essential for motor neuron health and survival in ALS
PMID: 35714755
4
Plasma PRPH is elevated in motor neuron diseases (particularly ALS) from early stages, discriminates MND from mimics, and correlates with disease progression and survival
PMID: 40476320
5
PRPH is elevated in cerebrospinal fluid and plasma post-TBI and serves as an immunohistological biomarker for traumatic axonal injury
PMID: 37574217
6
PRPH transcript changes occur in peripheral nerves with axonal loss in diabetic peripheral neuropathy, suggesting perturbed RNA transport in sensory axons
PMID: 40828619
Disease Associationsⓘ21
amyotrophic lateral sclerosisOpen Targets
0.47Moderate
familial amyotrophic lateral sclerosisOpen Targets
0.38Weak
sporadic amyotrophic lateral sclerosisOpen Targets
0.38Weak
prostate carcinomaOpen Targets
0.37Weak
metabolic syndromeOpen Targets
0.29Weak
genetic disorderOpen Targets
0.19Weak
male reproductive organ cancerOpen Targets
0.15Weak
frontotemporal dementia with motor neuron diseaseOpen Targets
0.12Weak
prostate cancerOpen Targets
0.11Weak
benign chondrogenic neoplasmOpen Targets
0.09Suggestive
type 1 diabetes mellitusOpen Targets
0.04Suggestive
Guillain-Barre syndromeOpen Targets
0.04Suggestive
mild neurocognitive disorderOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
endocrine neoplasmOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.02Suggestive
Amyotrophic lateral sclerosisUniProt
Pathogenic Variants3
NM_006262.4(PRPH):c.871-1G>ALikely pathogenic
Amyotrophic lateral sclerosis type 1
★☆☆☆2024
NM_006262.4(PRPH):c.607-1G>ALikely pathogenic
Amyotrophic lateral sclerosis type 1
★☆☆☆2022
NM_006262.4(PRPH):c.919C>T (p.Gln307Ter)Likely pathogenic
Amyotrophic lateral sclerosis type 1
★☆☆☆→ Residue 307
View on ClinVar ↗
Related Genes
BFSP2Shared pathway100%TCHHShared pathway100%NEFMProtein interaction90%NEFHProtein interaction90%NEFLProtein interaction90%AGFG2Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
2%
Heart
2%
Lung
1%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PRPHBFSP2TCHHNEFMNEFHNEFLAGFG2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P41219
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.72–1.16]
RankingsWhere PRPH stands among ~20K protein-coding genes
  • #6,104of 20,598
    Most Researched78
  • #4,020of 5,498
    Most Pathogenic Variants3
  • #12,129of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedPRPH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements.
PMID: 7806235
Genomics · 1994
1.00
2
Peripherin: A Novel Early Diagnostic and Prognostic Plasmatic Biomarker in Amyotrophic Lateral Sclerosis.
PMID: 40476320
Eur J Neurol · 2025
0.90
3
Cell and molecular profiles in peripheral nerves shift toward inflammatory phenotypes in diabetic peripheral neuropathy.
PMID: 40828619
J Clin Invest · 2025
0.80
4
Multiple roles for the cytoskeleton in ALS.
PMID: 35714755
Exp Neurol · 2022
0.70
5
Peripherin: A proposed biomarker of traumatic axonal injury triggered by mechanical force.
PMID: 37574217
Eur J Neurosci · 2023
0.60