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 macular dystrophy, patterned, 1 and macular dystrophy, vitelliform, 3. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNB2.
UniProtKB/Swiss-Prot for PRPH Gene
Class-III neuronal intermediate filament protein