PRPH, Official Symbol PRPHprovided by HGNC Official Full Name peripherinprovided by HGNC Primary source HGNC:HGNC:9461 See related Ensembl:ENSG00000135406 MIM:170710; AllianceGenome:HGNC:9461 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NEF4; PRPH1 Summary 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] Annotation information Note: PRPH (Gene ID: 5630) and PRPH2 (Gene ID: 5961) share the PRPH symbol/alias in common. PRPH is sometimes used as an alternative name for peripherin 2 (PRPH2), which can be confused with the official symbol for peripherin (PRPH). [05 Jul 2018] Expression Biased expression in testis (RPKM 11.3), adrenal (RPKM 6.4) and 6 other tissues See more Orthologs mouse all