Searchable abstracts of presentations at key conferences in endocrinology

ea0016s20.3 | Translational highlights | ECE2008

Monoallelic mutations in DUOXA2 are associated with mild permanent hypothyroidism and goiter

Ventura Paula , Azcona Cristina , Clemente Maria , Albisu Marian , Audi Laura , Carrascosa Antonio , Visser Theo , Moreno Jose C

Generation of H2O2 at the apical membrane of thyroid cells is essential for iodination of thyroglobulin. Dual oxidase 2 (DUOX2) is the catalytic core of the thyroidal H2O2 generator, and its deficiency leads to congenital hypothyroidism (CH) in humans and mice. The Dual oxidase maturation factor 2 (DUOXA2) is a recently identified endoplasmic reticulum (ER)-resident protein required for expression of DUOX2 activity.<p class="abst...