Peripherin ist ein Gen, das durch das Symbol PRPH kodiert wird. Im Allgemeinen auch bezeichnet als: Neurofilament 4; PRPH; NEF4; PRPH1. Peripherin hat eine Masse von 53.65kDa, eine Aminosäurelänge von 470, und ist an Amyotrophic lateral sclerosis beteiligt.
Wir bieten 11 antikörper gegen Peripherin, aufgewachsen in Kaninchen, Maus, Ziege und Huhn, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus, Ratte, Rind und Schwein.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis.
Gewebespezifität
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.
Rolle bei Krankheiten
Amyotrophic lateral sclerosis: 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.
Sequenzähnlichkeiten
Belongs to the intermediate filament family.
Posttranslationale Modifikation
Phosphorylated; phosphorylation increases after nerve injury in regenerating neurons.
Zellort
Cytoplasm > Cytoskeleton. Cell projection > Axon. Perikaryon.
