Peripherin è un gene codificato dal simbolo PRPH. Comunemente indicato anche come: Neurofilament 4; PRPH; NEF4; PRPH1. Peripherin ha una massa di 53.65kDa, una lunghezza di amminoacidi di 470, ed è implicato in Amyotrophic lateral sclerosis.
Offriamo 11 anticorpi contro Peripherin, allevati nel Coniglio, Topo, Capra e Pollo, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo, Ratto, Bovino e Maiale.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Specificità del tessuto
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the intermediate filament family.
Modifica post-translazionale
Phosphorylated; phosphorylation increases after nerve injury in regenerating neurons.
Posizione cellulare
Cytoplasm > Cytoskeleton. Cell projection > Axon. Perikaryon.