Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Dual oxidase maturation factor 2

The DUOXA2 gene encodes an important helper protein to thyroid hormone production. Mutations cause autosomal recessive thyroid dyshormonogenesis 5.

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 5
DUOXA2

References:

1.

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

external link
2.

Zamproni I et al. (2008) Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.

external link
3.

Orphanet article

Orphanet ID 168179 external link
4.

NCBI article

NCBI 405753 external link
5.

OMIM.ORG article

Omim 612772 external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues