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PMP22

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants.
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Transporters

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Proximal enterocytes, Hofbauer cells, Fibroblasts, Melanocytes, Leydig cells, Skeletal myocytes)

Immune cell specificity

Group enriched (eosinophil, basophil, plasmacytoid DC)

Cell line specificity

Cell line enhanced (ASC diff, HMC-1, SuSa, WM-115)

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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