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IYD

Chr 6q25.1

iodotyrosine deiodinase

Aliases:
dJ422F24.1, DEHAL1
MANE:
ENST00000344419.8

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital hypothyroidism

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • familial thyroid dyshormonogenesis

    0.65
  • respiratory system disorder

    0.31
  • iron metabolism disease

    0.10
  • rectosigmoid junction neoplasm

    0.09
  • Barrett esophagus

    0.07
  • hepatitis B virus infection

    0.07
  • esophageal adenocarcinoma

    0.04
  • hepatocellular carcinoma

    0.04
  • clear cell renal carcinoma

    0.04
  • hypothyroidism

    0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Iodotyrosine deiodinase 1

Catalyzes the dehalogenation of halotyrosines such as 3-bromo-L-tyrosine, 3-chloro-L-tyrosine, 3-iodo-L-tyrosine and 3,5-diiodo-L-tyrosine (PubMed:15289438, PubMed:18434651, PubMed:25395621, PubMed:28157283). During thyroid hormone biosynthesis, facilitates iodide salvage by catalysing the oxidative NADPH-dependent deiodination of the halogenated by-products of thyroid hormone production, monoiodotyrosine (L-MIT) and diiodotyrosine (L-DIT) (PubMed:15289438, PubMed:18434651). The scavanged iodide can then reenter the hormone-producing pathways (PubMed:15289438, PubMed:18434651). Acts more efficiently on 3-iodo-L-tyrosine than 3,5-diiodo-L-tyrosine (PubMed:15289438)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.