GENE NAME | DUOX1 |
CHROMOSOME | 15 |
ENSEMBL ID | ENSG00000137857 |
ENTREZ ID | 53905 |
UNIPROT ACCESSION NUMBER | Q9NRD9 |
GO MOLECULAR FUNCTION | calcium ion binding; superoxide-generating NAD(P)H oxidase activity; NAD(P)H oxidase H2O2-forming activity; peroxidase activity; metal ion binding; heme binding; oxidoreductase activity |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa04918; R-HSA-209776; R-HSA-71291; R-HSA-209968; R-HSA-1430728 |
2 combinations linked to DUOX1 | OLI032; OLI040 |
2 variants linked to DUOX1 | DUOX1:c.1525C>T, p.Arg509Trp; DUOX1:c.1823-1G>C, p.Val607AspfsTer43 |
1 disease linked to DUOX1 | Congenital hypothyroidism |