ARHGAP9
Description
The ARHGAP9 (Rho GTPase activating protein 9) is a protein-coding gene located on chromosome 12.
ARHGAP9 is a gene that encodes a protein belonging to the Rho-GAP family of GTPase activating proteins. This protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. ARHGAP9 is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene.
ARHGAP9 acts as a GTPase activator for Rho-type GTPases, converting them to an inactive GDP-bound state. It exhibits significant GAP activity towards CDC42 and RAC1, with lesser activity towards RHOA. ARHGAP9 plays a role in regulating the adhesion of hematopoietic cells to the extracellular matrix. It binds to phosphoinositides, with the highest affinity for phosphatidylinositol 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate.
ARHGAP9 is also known as 10C, RGL1.
Associated Diseases
- severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- Charcot-Marie-Tooth disease axonal type 2U
- hereditary spastic paraplegia
- breast cancer
- cancer
