Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Dual oxidase 2

The DUOX2 gene encodes an important enzyme to thyroid hormone production. Mutations cause autosomal recessive thyroid dyshormonogenesis 6.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Thyroid dyshormonogenesis 6
DUOX2

References:

1.

Moreno JC et al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

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2.

Vigone MC et al. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

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3.

Dupuy C et al. (1999) Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cdnas.

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4.

De Deken X et al. (2000) Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family.

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5.

Caillou B et al. (2001) Expression of reduced nicotinamide adenine dinucleotide phosphate oxidase (ThoX, LNOX, Duox) genes and proteins in human thyroid tissues.

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6.

Lacroix L et al. (2001) Expression of nicotinamide adenine dinucleotide phosphate oxidase flavoprotein DUOX genes and proteins in human papillary and follicular thyroid carcinomas.

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7.

Grasberger H et al. (2006) Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.

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8.

Niethammer P et al. (2009) A tissue-scale gradient of hydrogen peroxide mediates rapid wound detection in zebrafish.

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9.

NCBI article

NCBI 50506 external link
10.

OMIM.ORG article

Omim 606759 external link
11.

Orphanet article

Orphanet ID 121233 external link
12.

Wikipedia article

Wikipedia EN (Dual_oxidase_2) external link
Update: Aug. 14, 2020
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