PLEKHG2

Ideogram human chromosome 19

PLEKHG2

PLEKHG2 is a gene that encodes for a protein involved in cellular signaling pathways. This gene is located on chromosome 6 in humans. The protein encoded by PLEKHG2 is a member of the Rho guanine nucleotide exchange factor (GEF) family, which plays a crucial role in regulating the activity of Rho GTPases.

Function

PLEKHG2 functions as a GEF for the Rho family GTPase Rac1. By activating Rac1, PLEKHG2 is involved in various cellular processes such as cytoskeletal reorganization, cell migration, and cell adhesion. Additionally, PLEKHG2 has been implicated in the regulation of neuronal development and synaptic plasticity.

Clinical Significance

Mutations in the PLEKHG2 gene have been associated with certain neurological disorders, including developmental delay and intellectual disability. Studies have also suggested a potential role for PLEKHG2 in cancer progression, although further research is needed to fully understand its implications in oncogenesis.

Interactions

PLEKHG2 interacts with several other proteins involved in the Rho signaling pathway, such as Rho GTPases and downstream effectors. These interactions are essential for the proper regulation of cellular processes mediated by PLEKHG2.