Cloned (Comment) | Organism |
---|---|
expression in HeLa cell | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D506N | naturally occuring missense mutation. Mutant display a partial deficiency phenotype with reduced surface expression of protein with normal intrinsic activity in generating H2O2. N-glycan moieties of the mutant protein are not subject to normal modification in the Golgi apparatus | Homo sapiens |
Q36H | naturally occuring missense mutation. Mutation completely prevents routing of the protein to the cell surface. Protein is predominantly present as core N-glycosylated, thiol-reduced folding intermediate and retained within the endoplasmic reticulum | Homo sapiens |
R376W | naturally occuring missense mutation. Mutation completely prevents routing of the protein to the cell surface. Protein is predominantly present as core N-glycosylated, thiol-reduced folding intermediate and retained within the endoplasmic reticulum | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
plasma membrane | - |
Homo sapiens | 5886 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
isoform dual oxidase 2 | - |
Posttranslational Modification | Comment | Organism |
---|---|---|
glycoprotein | - |
Homo sapiens |
additional information | oxidative folding of wild-type protein in the endoplasmic reticulum is the rate-limiting step in the maturation, which is not faciltated by the speific maturation factor DUOXA2. DUOXA2 may allow for rapid exit of folded protein from the endoplasmatic reticulum or enahnced degradation of mutant protein | Homo sapiens |