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]
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.
Subcellular Location:
Cell membrane.
Tissue Specificity:
Expressed at a high level in thyroid gland and at lower level in kidney and trachea.
DISEASE:
Defects in IYD are the cause of congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:27960]; also known as genetic defect in thyroid hormonogenesis type 4 or iodotyrosine dehalogenase deficiency or deiodinase deficiency. Patients with this defect present a phenotype of severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized hypothyroidism.
Similarity:
Belongs to the nitroreductase family.
SWISS:
Q6PHW0
Gene ID:
389434
Database links:
Entrez Gene: 389434 Human
Entrez Gene: 70337 Mouse
Entrez Gene: 308129 Rat
Omim: 612025 Human
SwissProt: Q6PHW0 Human
SwissProt: Q9DCX8 Mouse
SwissProt: Q5BK17 Rat
Unigene: 310225 Human
Unigene: 24153 Mouse
Unigene: 34836 Rat
|
|
