PRPH

Function

Class-III neuronal intermediate filament protein (By similarity). May form an independent structural network without the involvement of other neurofilaments or may cooperate with the neuronal intermediate filament proteins NEFL, NEFH, NEFM and INA to form a filamentous network (PubMed:15446584, PubMed:15322088). Assembly of the neuronal intermediate filaments may be regulated by RAB7A (By similarity). Plays a role in the development of unmyelinated sensory neurons (By similarity). May be involved in axon elongation and axon regeneration after injury (By similarity). Inhibits neurite extension in type II spiral ganglion neurons in the cochlea (By similarity).

Involvement in disease

Amyotrophic lateral sclerosis

ALS

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

None

Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated; phosphorylation increases after nerve injury in regenerating neurons.

Sequence similarities

Belongs to the intermediate filament family.

Tissue specificity

Expressed in the neurons of the outer hair cells in the organ of Corti and to a lesser extent in type I spiral ganglion cells.

Cellular localization

• Cytoplasm
• Cytoskeleton
• Cell projection
• Axon
• Perikaryon

Alternative names

• Peripherin
• Neurofilament 4
• PRPH
• NEF4
• PRPH1

Database links

• entrezGene:5630
• omim:170710
• swissprot:P41219

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

53651Da