PLEKHG5

Description

The PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) is a protein-coding gene located on chromosome 1.

PLEKHG5 is a protein encoded by the PLEKHG5 gene. It functions as a catalyst for the exchange of GDP for GTP within the small GTPase RhoA, which influences cell polarization. It interacts with the Crumbs polarity complex and promotes tight junction stabilization. Inhibition of PLEKHG5 reduces cell motility and activates the NFKB1 signaling pathway. Mutations in the PLEKHG5 gene are associated with distal spinal muscular atrophy type 4 and its high expression in glioma cell lines suggests a role in tissue invasion.

PLEKHG5 is also known as ARHGEF45, CMTRIC, DSMA4, GEF720, HMNR4, Syx, Tech.

Associated Diseases

• Charcot-Marie-Tooth disease, recessive intermediate C
• Spinal muscular atrophy, distal, autosomal recessive, 4