IYD gene

iodotyrosine deiodinase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Iodotyrosine deiodination defect

From UniProt:

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. [MIM:274800]

Cytogenetic Location: 6q25.1, which is the long (q) arm of chromosome 6 at position 25.1

Molecular Location: base pairs 150,368,854 to 150,404,629 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q25.1, which is the long (q) arm of chromosome 6 at position 25.1
  • C6orf71
  • DEHAL1
  • IYD-1
  • TDH4