Dual oxidase maturation factor 2 (DUOXA2)

Dual oxidase maturation factor 2 (DUOXA2) is a transmembrane protein localized to the endoplasmic reticulum that acts as an essential chaperone and maturation factor for dual oxidase 2 (DUOX2), a hydrogen-peroxide-generating enzyme required for thyroid hormone synthesis[2][3][4]. DUOXA2 binds to DUOX2 and enables its proper folding and glycosylation, facilitating transport from the endoplasmic reticulum to the Golgi apparatus and subsequently to the plasma membrane, where DUOX2 generates H₂O₂ essential for iodide organification by thyroid peroxidase during hormonogenesis[2][3][4]. Mutations in DUOXA2 result in defective DUOX2 trafficking, reduced H₂O₂ generation, disrupted thyroid hormone synthesis, and are a recognized genetic cause of congenital hypothyroidism and thyroid dyshormonogenesis[2][3][5]. DUOXA2 does not itself generate H₂O₂ but is indispensable for the trafficking and functional activity of DUOX2. There are no known drugs that directly target DUOXA2, but mutations are important for the diagnosis and genetic counseling of hypothyroid disorders[3][5].

Other names

Dual oxidase activator 2DUOXA2Dual oxidase maturation factor 2SIMNIPHOMTDH5