DISEASES

Disease-gene associations mined from literature

Literature associating DUOX1 and autosomal recessive chronic granulomatous disease cytochrome b-negative

DUOX1 [ENSP00000317997]

NADPH thyroid oxidase 1; Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain; EF-hand domain containing

Synonyms:  DUOX1,  DUOX1p,  hDUOX1,  H0YK19,  H0YNR5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM