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CDC42

MIM.116952 1p36.1

Functions

- stimulation of changes in the actin cytoskeleton
- establishment of cell polarity
- regulation of intracellular trafficking
- regulation of cell growth
- regulation of the processing of the EGF receptor

GTPase signaling is essential for proper myelination of the peripheral nervous system, and Cdc42-mediated cell-shape changes in transfected Schwann cells.

Pathology

- FGD4 is a GEF for the Rho GTPase cell-division cycle 42 (Cdc42).

  • FGD4 causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy type 4H (CMT4H).

Signaling pathways

- CDC42 signaling pathway (Linnea)

References

- Cerione RA. Cdc42: new roads to travel. Trends Cell Biol. 2004 Mar;14(3):127-32. PMID: 15003621