DUOXA1
Dual Oxidase Maturation Factor 1
Gene Information Card
| Symbol | DUOXA1 |
|---|---|
| Full Name | Dual Oxidase Maturation Factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 90527 ncbi.nlm.nih.gov/gene/90527 |
| Ensembl ID | ENSG00000140254 |
| UniProt ID | Q1HG43 |
| OMIM ID | 612772 |
| HGNC ID | 26508 |
| Aliases | DUOXA1, FLJ25416, MGC138290 |
Description
DUOXA1 encodes dual oxidase maturation factor 1, a protein required for the functional maturation and membrane targeting of dual oxidase 2 (DUOX2). DUOX2 is a NADPH oxidase that generates hydrogen peroxide (H2O2) in the thyroid gland, essential for thyroid peroxidase-catalyzed iodination of thyroglobulin during thyroid hormone synthesis. DUOXA1 acts as a chaperone, facilitating DUOX2 folding, stability, and translocation to the plasma membrane. Loss-of-function mutations in DUOXA1 lead to defective H2O2 production and cause congenital hypothyroidism due to thyroid dyshormonogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital hypothyroidism (non-goitrous, type 6) | Loss-of-function mutations impair DUOX2 maturation, reducing H2O2 production and thyroid hormone synthesis | OMIM #612772; ClinVar pathogenic variants |
| Thyroid dyshormonogenesis | Defective DUOX2 activity due to DUOXA1 deficiency disrupts iodide organification | NCBI Gene; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.5 | High |
| Trachea | 3.2 | Medium |
| Lung | 1.8 | Low |
| Salivary gland | 1.5 | Low |
| Kidney | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Thyroid follicular cells | 12.5 | Primary site of DUOX2 maturation |
| HEK293 | 0.2 | Low endogenous expression |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.738C>G (p.Tyr246*) | Nonsense | Rare | Loss of function; truncated protein unable to mature DUOX2 |
| c.1114C>T (p.Arg372Trp) | Missense | Rare | Impaired DUOX2 interaction; reduced H2O2 production |
| c.1291G>A (p.Gly431Arg) | Missense | Rare | Defective membrane targeting of DUOX2 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt DUOXA1 chaperone activity, leading to reduced or absent DUOX2 expression at the plasma membrane and diminished H2O2 production.
Gain of Function (GOF)
Not reported for DUOXA1.
Dominant Negative (DN)
Not reported for DUOXA1.
View complete mutation data：
Gene Ontology (GO)
| • protein folding chaperone | • protein maturation |
| • hydrogen peroxide biosynthetic process | • thyroid hormone generation |
| • integral component of membrane | • endoplasmic reticulum membrane |
Pathways
• Thyroid hormone synthesis (KEGG hsa04918)
• NADPH oxidase assembly
Protein Summary
DUOXA1 is a 42 kDa transmembrane protein localized to the endoplasmic reticulum and plasma membrane. It contains a conserved domain for interaction with DUOX2, facilitating its maturation and export from the ER. Without DUOXA1, DUOX2 remains in the ER and is degraded, preventing H2O2 production necessary for thyroid hormone synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUOXA1 Knockout HEK293 Cell Line | EDJ-KQ10613 | Human | 90527 | Details Get a Quote |
| DUOXA1 Knockout HeLa Cell Line | EDJ-KQ57775 | Human | 90527 | Details Get a Quote |
| DUOXA1 Knockout A-549 Cell Line | EDJ-KQ66271 | Human | 90527 | Details Get a Quote |
| DUOXA1 Knockout HCT 116 Cell Line | EDJ-KQ74691 | Human | 90527 | Details Get a Quote |
