NOXA1
Chr 9NADPH oxidase activator 1
Also known as: NY-CO-31, SDCCAG31, p51NOX
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NOXA1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools