Synthesized peptide derived from the C-terminal region of human PRPH. Location: 390-470aa.
Alternative Synonym:
NEF4, PRPH1
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.
