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DUOXA2 is a 320 amino acid multi-pass membrane protein that localizes to the endoplasmic reticulum (ER) and belongs to the DUOXA family. Expressed specifically in thyroid and salivary glands, DUOXA2 is essential for the maturation and transport of DUOX2 from the ER to the plasma membrane and is also thought to play a role in the synthesis of thyroid hormone (TH). Defects in the DUOXA2 gene are associated with the pathogenesis of congenital hypothyroidism, a disorder that affects infants and is characterized by a significant decrease or a complete deficiency of TH from birth. The gene encoding DUOXA2 maps to human chromosome 15, which houses over 700 genes and comprises nearly 3 % of the human genome. Angelman syndrome, Prader-Willi syndrome, Tay-Sachs disease and Marfan syndrome are all associated with defects in chromosome 15-localized genes.
Subcellular location: Extracellular
Synonyms: Dual oxidase activator 2, Dual oxidase maturation factor 2, SIMNIPHOM, TDH5, DOXA2_HUMAN, Dual oxidase maturation factor-2, Dual oxidase activator 2..