Entrez gene ID | | 5630 |
Official gene symbol | | PRPH |
Full name | | peripherin |
Aliases | | ,NEF4,PRPH1, |
Gene 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] |
Location | | Chromosome: 12 Locus: 12q12-q13 |
Gene position | | 49688909 - 49692481 Map Viewer |
Gene orientation | | plus |
Gene size | | 3573 bp |
Gene sequence |
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OMIM ID | | 170710 |
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