Gene Symbol | PRPH |
Entrez Gene ID | 5630 |
Full Name | peripherin |
Synonyms | NEF4,PRPH1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) |