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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

DUOXA2  -  dual oxidase maturation factor 2

Homo sapiens

Synonyms: Dual oxidase activator 2, Dual oxidase maturation factor 2, SIMNIPHOM, TDH5
 
 
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Disease relevance of DUOXA2

  • We report the first mutation in DUOXA2, identified in a patient with CH and dyshormonogenic goiter [1].
 

High impact information on DUOXA2

  • By data mining of a massively parallel signature sequencing tissue expression data base, we identified an uncharacterized gene named DUOX maturation factor (DUOXA2) arranged head-to-head to and co-expressed with DUOX2 [2].
 

Anatomical context of DUOXA2

  • We demonstrate that co-expression of DUOXA2, an ER-resident transmembrane protein, allows ER-to-Golgi transition, maturation, and translocation to the plasma membrane of functional DUOX2 in a heterologous system [2].

References

  1. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. Zamproni, I., Grasberger, H., Cortinovis, F., Vigone, M.C., Chiumello, G., Mora, S., Onigata, K., Fugazzola, L., Refetoff, S., Persani, L., Weber, G. J. Clin. Endocrinol. Metab. (2008) [Pubmed]
  2. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. Grasberger, H., Refetoff, S. J. Biol. Chem. (2006) [Pubmed]
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