PRPH1
MIM.170710 12q12-q13
Peripherin-1 is a type III intermediate filament protein. This cytoskeletal protein present in neurons of the mammalian peripheral nervous system and in cultured neuroblastoma cells.
Pathology
genic variants in susceptibility to amyotrophic lateral sclerosis (MIM.105400)
See also
PRPHs
- PRPH2