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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.

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 4
IYD

References:

1.

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

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2.

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

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3.

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

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4.

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.

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5.

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

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6.

NCBI article

NCBI 389434 external link
7.

OMIM.ORG article

Omim 612025 external link
8.

Orphanet article

Orphanet ID 201101 external link
9.

Wikipedia article

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