DUOX1

Chr 15

dual oxidase 1

Also known as: LNOX1, NOXEF1, THOX1

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
37
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.94
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.94LOEUF
pLI 0.000
Z-score 2.00
OE 0.76 (0.62–0.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.89Z-score
OE missense 0.92 (0.87–0.97)
862 obs / 938.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.62–0.94)
0≤0.351.4
Missense OE?0.92 (0.87–0.97)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 61 / 80.4Missense obs/exp: 862 / 938.4Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DUOX1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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