DISEASES

Disease-gene associations mined from literature

Literature associating DUOXA2 and IGSF1 deficiency syndrome

DUOXA2 [ENSP00000319705]

Dual oxidase maturation factor 2; Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis.

Synonyms:  DUOXA2,  DUOXA2p,  hDUOXA2,  Q1HG44,  Q1HG44p ...

Linkouts:  STRING  Pharos  UniProt  OMIM