DUOXA1 is a 343 amino acid multi-pass membrane protein that belongs to the DUOXA family and exists as multiple alternatively spliced isoforms. Expressed almost exclusively in thyroid tissue, but also present in esophageal tissue, DUOXA1 interacts with NUMB and is thought to be essential for the maturation and transport of functional DUOX1 from the endoplasmic reticulum to the plasma membrane. The gene encoding DUOXA1 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.
