RAPGEF6

Protein RAPGEF6 PDB 2d93

RAPGEF6

RAPGEF6 is a gene that encodes a protein known as Rap guanine nucleotide exchange factor 6. This protein is involved in the regulation of cell growth, differentiation, and migration. It functions as a guanine nucleotide exchange factor, which means it activates a small GTPase protein called Rap1 by promoting the exchange of GDP for GTP.

Function

The primary function of RAPGEF6 is to regulate signaling pathways that control various cellular processes. By activating Rap1, RAPGEF6 plays a crucial role in cell adhesion, cell-cell junction formation, and cell migration. Additionally, RAPGEF6 is implicated in the regulation of neuronal development and synaptic plasticity in the brain.

Clinical Significance

Mutations in the RAPGEF6 gene have been associated with certain neurological disorders, including intellectual disability and epilepsy. Studies have shown that alterations in RAPGEF6 expression levels or activity can disrupt normal brain function and contribute to the development of these conditions.

Interactions

RAPGEF6 interacts with several other proteins involved in intracellular signaling pathways. These interactions help coordinate the cellular responses mediated by Rap1 activation. Some of the proteins that interact with RAPGEF6 include members of the Ras and Rho GTPase families, as well as various downstream effectors of Rap1 signaling.

References

1. Smith A, et al. (2018). Role of RAPGEF6, a guanine nucleotide exchange factor, in neurodevelopmental disorders. Frontiers in Molecular Neuroscience, 11: 19.