Aliases for NOXO1 Gene
External Ids for NOXO1 Gene
Previous GeneCards Identifiers for NOXO1 Gene
This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
GeneCards Summary for NOXO1 Gene
NOXO1 (NADPH Oxidase Organizer 1) is a Protein Coding gene. Diseases associated with NOXO1 include Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay. Among its related pathways are Signaling by Rho GTPases and TNFR1 Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and phospholipid binding. An important paralog of this gene is SH3PXD2A.
UniProtKB/Swiss-Prot for NOXO1 Gene
Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity.