Peripherin
Peripherin
Peripherin (/pəˈrɪfərɪn/) is a type of Intermediate filament protein that is expressed primarily in the Peripheral nervous system. It is involved in the formation of neurofilaments, which are essential for the proper functioning of neurons.
Etymology
The term "peripherin" is derived from the word "peripheral", referring to its primary location in the peripheral nervous system, and the suffix "-in", which is commonly used in the names of proteins.
Function
Peripherin is a type of cytoskeletal protein that helps to maintain the structural integrity of neurons. It is involved in the formation of neurofilaments, which are essential for the proper functioning of neurons. These filaments provide structural support for the axon and regulate its diameter, which in turn influences the speed of nerve impulse transmission.
Clinical significance
Mutations in the gene that encodes peripherin can lead to various neurological disorders. For example, some forms of Charcot-Marie-Tooth disease, a genetic disorder that affects the peripheral nerves, have been linked to mutations in the peripherin gene. Additionally, abnormal accumulation of peripherin has been observed in the spinal cord motor neurons of patients with Amyotrophic lateral sclerosis (ALS), suggesting a possible role in the pathogenesis of this disease.
Related terms
- Intermediate filament protein
- Peripheral nervous system
- Neurofilament
- Cytoskeletal protein
- Axon
- Nerve impulse
- Charcot-Marie-Tooth disease
- Amyotrophic lateral sclerosis
External links
- Medical encyclopedia article on Peripherin
- Wikipedia's article - Peripherin
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