Peripherin

Peripherin is a type of Intermediate filament protein that is expressed primarily in the Peripheral nervous system. It is encoded by the PRPH gene in humans. Peripherin is a 57 kDa protein that is involved in the formation of neurofilaments which are responsible for maintaining the structural integrity of neurons.

Function

Peripherin is a type III intermediate filament protein that is expressed in neurons of the peripheral nervous system and some central nervous system neurons derived from the neural crest. It is known to play a crucial role in defining the morphology of neurons. It is also involved in the formation of neurofilaments which are responsible for maintaining the structural integrity of neurons.

Clinical significance

Mutations in the PRPH gene have been associated with a variety of neurodegenerative diseases, including Amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease, and Neurofilament diseases. In addition, overexpression of peripherin has been observed in patients with type II Diabetes mellitus, suggesting a potential role in the pathogenesis of this disease.

See also

• Intermediate filament
• Neurofilament
• Amyotrophic lateral sclerosis
• Charcot-Marie-Tooth disease
• Diabetes mellitus

References

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External links

• PRPH at the National Center for Biotechnology Information

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