RASA4
Description
The RASA4 (RAS p21 protein activator 4) is a protein-coding gene located on chromosome 7.
RASA4 (Ras GTPase-activating protein 4) is an enzyme encoded by the RASA4 gene in humans. It belongs to the GAP1 family of GTPase-activating proteins, which suppress the Ras/mitogen-activated protein kinase (MAPK) pathway in response to calcium ions (Ca(2+)). When intracellular Ca(2+) levels increase, RASA4 translocates to the plasma membrane, where it activates its GTPase activity. This activity converts Ras from its active GTP-bound state to the inactive GDP-bound state, effectively shutting down downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene.
RASA4 is a calcium-dependent Ras GTPase-activating protein that deactivates the Ras-MAPK pathway when intracellular calcium levels rise. It also acts as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis.
RASA4 is also known as CAPRI, GAPL.
Associated Diseases
- isolated agammaglobulinemia
- immune deficiency, familial variable
- hyper-IgM syndrome type 2
- recurrent Neisseria infections due to factor D deficiency
- immunodeficiency 28
- common variable immunodeficiency
- immunodeficiency, common variable, 4
- mannose-binding lectin deficiency
- type II complement component 8 deficiency
- hyper-IgM syndrome type 5
- hyper-IgM syndrome type 3
- autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
