NOXO1

Chr 16

NADPH oxidase organizer 1

Also known as: P41NOX, P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28

NCBI Gene: 124056 ENSG00000196408 UniProt: Q8NFA2 OMIM: 611256

The protein is an NADPH oxidase organizer that potentiates superoxide-generating activity of NOX1 and NOX3 and is required for biogenesis of otoconia, the crystalline structures in the inner ear that detect gravity. Mutations cause autosomal recessive hearing loss with vestibular dysfunction due to absent or malformed otoconia. The gene shows low constraint to loss-of-function variants, consistent with a recessive inheritance pattern affecting primarily inner ear development and function.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.62

LOEUF

GOF

Mechanism· predicted