NOXA1

Chr 9

NADPH oxidase activator 1

Also known as: NY-CO-31, SDCCAG31, p51NOX

NCBI Gene: 10811 ENSG00000188747 UniProt: Q86UR1

This gene encodes a protein that activates NADPH oxidases NOX1, NOX3, and CYBB/gp91phox, which produce reactive oxygen species involved in host defense, hormone biosynthesis, and cellular signaling. Mutations cause ataxia-telangiectasia-like disorder, an autosomal recessive condition characterized by progressive cerebellar ataxia, telangiectasias, and immunodeficiency. The gene shows minimal constraint against loss-of-function variants in the population.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.03

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)