|Other Names||Iodotyrosine dehalogenase 1, IYD-1, IYD, C6orf71, DEHAL1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways. Acts more efficiently on monoiodotyrosine than on diiodotyrosine.|
|Cellular Location||Cell membrane; Single-pass membrane protein|
|Tissue Location||Expressed at a high level in thyroid gland and at lower level in kidney and trachea|
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This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4.
Thomas, S.R., et al. J. Biol. Chem. 284(29):19659-19667(2009)Otowa, T., et al. J. Hum. Genet. 54(2):122-126(2009)Afink, G., et al. J. Clin. Endocrinol. Metab. 93(12):4894-4901(2008)Moreno, J.C., et al. N. Engl. J. Med. 358(17):1811-1818(2008)Krause, K., et al. Eur. J. Endocrinol. 156(3):295-301(2007)
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