GENE NAME | DUOXA1 |
CHROMOSOME | 15 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000140254 |
UNIPROT ACCESSION NUMBER | Q1HG43 |
GO MOLECULAR FUNCTION | |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
7 combinations linked to DUOXA1 | OLI1496; OLI1497; OLI1498; OLI1079; OLI1078; OLI1484; OLI1077 |
3 variants linked to DUOXA1 | DUOXA1:c.638C>T, p.Thr213Met; DUOXA1:c.937A>G, p.Ser313Gly; DUOXA1:c.503C>T, p.Thr168Met |
1 disease linked to DUOXA1 | Congenital hypothyroidism |