NOX1

Chr X

NADPH oxidase 1

Also known as: GP91-2, MOX1, NOH-1, NOH-1L, NOH1

This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

OMIMResearchGenerating clinical summary…
2
Active trials
178
Pubs (1 yr)
P/LP submissions
P/LP missense
1.06
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.06LOEUF
pLI 0.000
Z-score 1.34
OE 0.68 (0.451.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.05Z-score
OE missense 1.01 (0.901.13)
210 obs / 207.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.68 (0.451.06)
00.351.4
Missense OE?1.01 (0.901.13)
00.61.4
Synonymous OE?0.85
01.21.6
LoF obs/exp: 14 / 20.6Missense obs/exp: 210 / 207.9Syn Z: 0.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NOX1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.