RHPN1

Ideogram human chromosome 8

RHPN1

RHPN1 is a gene that encodes the protein Rhophilin Rho GTPase binding protein 1. This protein is involved in the regulation of Rho GTPases, which play a crucial role in various cellular processes such as cell migration, cell division, and cell adhesion.

Function

The protein encoded by RHPN1 interacts with Rho GTPases and modulates their activity, thereby influencing downstream signaling pathways. This protein is known to be involved in the regulation of actin cytoskeleton dynamics and cell morphology.

Clinical Significance

Mutations in the RHPN1 gene have been associated with certain neurological disorders, including intellectual disability and developmental delay. Studies have shown that dysregulation of Rho GTPase signaling, mediated by RHPN1, can lead to abnormal neuronal development and function.

Interactions

RHPN1 has been found to interact with several other proteins involved in Rho GTPase signaling pathways, such as RhoA and Cdc42. These interactions are essential for the proper functioning of the cellular processes regulated by Rho GTPases.