Senin, 31 Oktober 2011

Gene Associated With Multinodular Goiter: IYD = Iodotyrosine deiodinase gene

a. The official name of the IYD gene

   The official name of this gene is “iodotyrosine deiodinase.” IYD is the gene's official symbol. The IYD gene is also known by other names.


b. The normal function of the IYD gene

    From Entrez Gene:

    This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of  mono- and diiodotyrosine, which are the halogenated by products 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. Alternative splicing results in multiple transcript variants. 


   From UniProt:

    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.


c. The IYD gene related to health conditions

    UniProt provides the following information about the IYD gene's known or predicted involvement in human disease. Defects in IYD are the cause of thyroid dyshormonogenesis 4 (TDH4). A disorder due to thyroid dyshormonogenesis, 

   causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism.


d. The IYD gene located

    Cytogenetic Location: 6q25.1. Molecular Location on chromosome 6: base pairs 150,690,027 to 150,725,764. The IYD gene is located on the long (q) arm of chromosome 6 at position 25.1. More precisely, the IYD gene is located from base pair 150,690,027 to base pair 150,725,764 on chromosome 6.



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