Aliases for IYD Gene
External Ids for IYD Gene
Previous HGNC Symbols for IYD Gene
Previous GeneCards Identifiers for IYD Gene
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]
GeneCards Summary for IYD Gene
IYD (Iodotyrosine Deiodinase) is a Protein Coding gene. Diseases associated with IYD include Thyroid Dyshormonogenesis 4 and Familial Thyroid Dyshormonogenesis. Among its related pathways are Metabolism and Amine-derived hormones. GO annotations related to this gene include oxidoreductase activity and iodide peroxidase activity.
UniProtKB/Swiss-Prot for IYD Gene
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.