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PRPH peripherin

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]

Genomic context

Location:
12q13.12
Sequence:
Chromosome: 12; NC_000012.12 (49295013..49298698)
Total number of exons:
9

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