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    For Research Use Only. Not For Clinical Use.


    This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined.
    Protein class

    Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins

    Predicted location

    Intracellular, Membrane (different isoforms)

    Single cell type specificity

    Cell type enhanced (Adipocytes, Endothelial cells, Late spermatids, Early spermatids, Peritubular cells)

    Immune cell specificity

    Group enriched (memory CD4 T-cell, T-reg)

    Cell line specificity

    Group enriched (Karpas-707, RPMI-8226)

    Interaction

    Interacts with DUOX1, DUOX2 and CYBA.

    Molecular function

    Oxidoreductase, Peroxidase

    More Types Infomation
    Related Diseases
    Autoimmune Thyroid Disease Autoimmune Thyroid Disease
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