Dual Oxidase 2

Alternative Names

  • DUOX2
  • Thyroid Oxidase 2
  • THOX2

Associated Diseases

Thyroid Dyshormonogenesis 6
Back to search Result
OMIM Number

606759

NCBI Gene ID

50506

Uniprot ID

Q9NRD8

Length

21,523 bases

No. of Exons

34

No. of isoforms

1

Protein Name

Dual oxidase 2

Molecular Mass

175364 Da

Amino Acid Count

1548

Genomic Location

chr15:45,092,649-45,114,171

Gene Map Locus
15q21.1

Description

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001363711.1:c.3082_3085delinsGCTTCCTOmanNC_000015.10:g.45100149_45100152delinsAGGAAGCPathogenicThyroid Dyshormonogenesis 6NG_009447.1:g.19010_19013delinsGCTTCCT; NM_001363711.1:c.3082_3085delinsGCTTCCT; NP_001350640.1:p.Leu1028delinsAlaSerTer
© CAGS 2024. All rights reserved.