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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.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Group enriched (Late spermatids, Early spermatids)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (AN3-CA)

Interaction

Forms homodimers (in vitro) (By similarity). Homopolymerizes into a filamentous network (in vitro) (PubMed:15446584). Forms heterodimers with NEFL, NEFM or NEFH (in vitro) (By similarity). Interacts with DST (via C-terminus) (By similarity). Interacts with RAB7A; the interaction is direct (PubMed:23179371). Interacts with PRKCE (via phorbol-ester/DAG-type 2 domain) (PubMed:18408015).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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