PRPH

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]

Description

peripherin

Protein family

Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

12:q13.12 (49293252 - 49298686)

Ensembl ID

ENSG00000135406  (ver. 99.38)

Orthologs

Mouse Prph: ENSMUSG00000023484

UniProt

P41219

neXtProt

NX_P41219

Human splice variants
Mouse splice variants