Aliases for DUOXA2 Gene
External Ids for DUOXA2 Gene
Previous GeneCards Identifiers for DUOXA2 Gene
This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]
GeneCards Summary for DUOXA2 Gene
DUOXA2 (Dual Oxidase Maturation Factor 2) is a Protein Coding gene. Diseases associated with DUOXA2 include Thyroid Dyshormonogenesis 5 and Familial Thyroid Dyshormonogenesis. Among its related pathways are Aldosterone synthesis and secretion. An important paralog of this gene is DUOXA1.
UniProtKB/Swiss-Prot for DUOXA2 Gene
Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis.