Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Iodotyrosine deiodinase 1

The IYD gene encodes an enzyme which plays an important role in thyroid hormone metabolism. It is reponsible for the removal of iodine from tyrosine residues. Mutations cause autosomal recessive thyroid dyshormonogenesis 4.


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

Related Diseases:

Thyroid dyshormonogenesis 4



HUTCHISON JH et. al. (1954) Hypothyroidism as an inborn error of metabolism.


Gnidehou S et. al. (2004) Iodotyrosine dehalogenase 1 (DEHAL1) is a transmembrane protein involved in the recycling of iodide close to the thyroglobulin iodination site.


Friedman JE et. al. (2006) Iodotyrosine deiodinase is the first mammalian member of the NADH oxidase/flavin reductase superfamily.


Moreno JC et. al. (2008) Mutations in the iodotyrosine deiodinase gene and hypothyroidism.


Afink G et. al. (2008) Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.

Update: Sept. 26, 2018