NOX3

Chr 6

NADPH oxidase 3

Also known as: GP91-3, MOX-2

NCBI Gene: 50508 ENSG00000074771 UniProt: Q9HBY0

This protein is a NADPH oxidase that generates superoxide and other reactive oxygen species, and plays a critical role in the biogenesis of otoconia/otoliths, the crystalline structures in the inner ear involved in gravity perception. Mutations cause autosomal recessive congenital hearing loss with vestibular dysfunction. The gene is highly constrained against loss-of-function variation, indicating that complete loss of NOX3 function is likely incompatible with normal inner ear development.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.05

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)