Iodotyrosine Deiodinase (IYD) Human Recombinant Protein

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

IYD: 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. 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. Belongs to the nitroreductase family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Oxidoreductase; Membrane protein, integral; EC 1.22.1.1

Chromosomal Location of Human Ortholog: 6q25.1

Cellular Component: plasma membrane; integral to membrane

Molecular Function: iodide peroxidase activity; oxidoreductase activity

Biological Process: thyroid hormone generation

Disease: Thyroid Dyshormonogenesis 4