Peripherin: Difference between revisions

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'''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.
== Peripherin ==


== Function ==
[[File:Chromosome_12.jpeg|thumb|right|Chromosome 12, where the peripherin gene is located.]]
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 ==
'''Peripherin''' is a type of [[intermediate filament]] protein that is primarily expressed in the [[peripheral nervous system]]. It plays a crucial role in the development and maintenance of [[neurons]], particularly in the [[axon]]s of [[sensory neurons]] and [[motor neurons]].
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 ==
=== Structure ===
* [[Intermediate filament]]
Peripherin is a member of the type III intermediate filament protein family. It shares structural similarities with other intermediate filament proteins, such as [[vimentin]], [[desmin]], and [[glial fibrillary acidic protein]] (GFAP). The protein is encoded by the PRPH gene, which is located on [[chromosome 12]] in humans.
* [[Neurofilament]]
 
* [[Amyotrophic lateral sclerosis]]
=== Function ===
* [[Charcot-Marie-Tooth disease]]
Peripherin is involved in the formation of the [[cytoskeleton]] in neurons. It contributes to the stability and integrity of the [[axon]]s, facilitating the proper transmission of [[nerve impulses]]. Peripherin is also implicated in the regeneration of [[nerve fibers]] following injury, making it a protein of interest in [[neurodegenerative disease]] research.
* [[Diabetes mellitus]]


== References ==
=== Expression ===
<references />
Peripherin is predominantly expressed in the [[peripheral nervous system]], but it can also be found in certain regions of the [[central nervous system]]. Its expression is regulated during [[neuronal development]] and is upregulated in response to [[nerve injury]].


== External links ==
=== Clinical Significance ===
* [https://www.ncbi.nlm.nih.gov/gene/5630 PRPH] at the National Center for Biotechnology Information
Mutations or dysregulation of peripherin have been associated with various [[neurological disorders]]. For instance, abnormal peripherin aggregation has been observed in [[amyotrophic lateral sclerosis]] (ALS) and other [[motor neuron diseases]]. Research is ongoing to understand the role of peripherin in these conditions and its potential as a therapeutic target.
 
== Related pages ==
* [[Intermediate filament]]
* [[Peripheral nervous system]]
* [[Neuron]]
* [[Axon]]
* [[Neurodegenerative disease]]


[[Category:Proteins]]
[[Category:Proteins]]
[[Category:Neurology]]
[[Category:Neuroscience]]
[[Category:Neurodegenerative diseases]]
[[Category:Genetics]]
 
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Latest revision as of 10:51, 15 February 2025

Peripherin[edit]

Chromosome 12, where the peripherin gene is located.

Peripherin is a type of intermediate filament protein that is primarily expressed in the peripheral nervous system. It plays a crucial role in the development and maintenance of neurons, particularly in the axons of sensory neurons and motor neurons.

Structure[edit]

Peripherin is a member of the type III intermediate filament protein family. It shares structural similarities with other intermediate filament proteins, such as vimentin, desmin, and glial fibrillary acidic protein (GFAP). The protein is encoded by the PRPH gene, which is located on chromosome 12 in humans.

Function[edit]

Peripherin is involved in the formation of the cytoskeleton in neurons. It contributes to the stability and integrity of the axons, facilitating the proper transmission of nerve impulses. Peripherin is also implicated in the regeneration of nerve fibers following injury, making it a protein of interest in neurodegenerative disease research.

Expression[edit]

Peripherin is predominantly expressed in the peripheral nervous system, but it can also be found in certain regions of the central nervous system. Its expression is regulated during neuronal development and is upregulated in response to nerve injury.

Clinical Significance[edit]

Mutations or dysregulation of peripherin have been associated with various neurological disorders. For instance, abnormal peripherin aggregation has been observed in amyotrophic lateral sclerosis (ALS) and other motor neuron diseases. Research is ongoing to understand the role of peripherin in these conditions and its potential as a therapeutic target.

Related pages[edit]