Details for Gene DUOX1

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 OLI040; OLI032
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

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