Jodtyrosin-Dejodase 1
Das IYD-Gen kodiert ein wichtiges Enzym im Stoffwechsel der Schilddrüsenhormone, welches für die Entfernung von Jod an den Tyrosinresten verantwortlich ist. Mutationen führen zur autosomal rezessiven Thyroiddyshormonogenesis 4.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020