Aliases for PRPH Gene
External Ids for PRPH Gene
Previous HGNC Symbols for PRPH Gene
Previous GeneCards Identifiers for PRPH Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for PRPH Gene
PRPH (Peripherin) is a Protein Coding gene. Diseases associated with PRPH include Amyotrophic Lateral Sclerosis 1 and Lateral Sclerosis. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Cytoskeleton remodeling Neurofilaments. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is VIM.
UniProtKB/Swiss-Prot Summary for PRPH Gene
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).