NOXO1
Description
The NOXO1 (NADPH oxidase organizer 1) is a protein-coding gene located on chromosome 16.
NADPH oxidase organizer 1 is an enzyme that in humans is encoded by the NOXO1 gene.
NOXO1 is a crucial regulator of the NADPH oxidase system, specifically enhancing the superoxide-generating activity of NOX1 and NOX3. This function is essential for the formation of otoconia/otoliths, the inner ear crystals responsible for gravity perception. The isoform 3 of NOXO1 is more effective than isoform 1 in activating NOX3. Notably, NOXO1, in conjunction with NOXA1, can substitute for NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity. These findings highlight the intricate role of NOXO1 in cellular signaling and development.
NOXO1 is also known as P41NOX, P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28.
Associated Diseases
- chorea, childhood-onset, with psychomotor retardation
- intellectual disability, autosomal recessive 58
- guanidinoacetate methyltransferase deficiency
- benign paroxysmal torticollis of infancy
- pulmonary hypertension
- cancer
