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PRPH1

MIM.170710 12q12-q13

Saturday 19 March 2005

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