Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 |
| 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 |
| 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
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| 7. |
OMIM.ORG article Omim 612025
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| 8. |
Orphanet article Orphanet ID 201101
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| 9. |
Wikipedia article Wikipedia EN (Iodotyrosine_deiodinase)
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