PRX

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For Research Use Only. Not For Clinical Use.


Background

This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Skeletal myocytes, Breast myoepithelial cells, Adipocytes, Cardiomyocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Low cell line specificity

Interaction

Homodimer (via PDZ domain) (PubMed:24675079). Interacts with SCN10A. Found in a complex with SCN10A (By similarity). Interacts with DRP2. Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). Detected in a complex composed of at least EZR, AHNAK, PPL and PRX (By similarity). Identified in a complex with EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, VIM and spectrin (By similarity).

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