Rho GTPase-activating protein 31 (ARHGAP31)

Rho GTPase-activating protein 31 (ARHGAP31) is an enzyme that functions as a GTPase-activating protein (GAP) for the small GTPases RAC1 and CDC42, inactivating them by stimulating the conversion of GTP to GDP[1][3][5][6][7][8]. These GTPases play crucial roles in processes such as cell migration, cell polarity, cytoskeletal dynamics, and embryonic development. ARHGAP31 is particularly important in the development of the limbs, skull, and heart. Gain-of-function mutations in ARHGAP31 result in increased GAP activity, lower levels of active CDC42/RAC1, and are linked to Adams-Oliver syndrome, a disorder characterized by scalp defects and limb malformations[2][3]. Key details: - ARHGAP31 is not a receptor or common drug target, but rather a regulatory enzyme involved in shutting off signaling by key Rho family GTPases[1][8]. - The primary clinical relevance is its involvement in rare genetic developmental syndromes, rather than in common diseases or pharmacological intervention[2][3]. - No approved drugs are known to target ARHGAP31 directly, nor is it used as a biomarker in clinical practice[5][6][8].

Other names

Cdc42 GTPase-activating proteinCDGAPKIAA1204RHG31_HUMANAOS1

Not established for drugs (target is not a current therapeutic target)