IYD Chromosome 6
Iodotyrosine deiodinase
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What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
6q25.1
Ensembl
ENSG00000009765
Associated Conditions (2)
IYD-related disorder
Iodotyrosine deiodination defect
Key Variants
RS146905706
Conflicting classifications of pathogenicity
IYD-related disorder, IYD-related disorder
Health Risk
RS200771803
Conflicting classifications of pathogenicity
Health Risk
RS763040556
Conflicting classifications of pathogenicity
Iodotyrosine deiodination defect, Iodotyrosine deiodination defect
Health Risk
RS863223276
Conflicting classifications of pathogenicity
Iodotyrosine deiodination defect, IYD-related disorder, Iodotyrosine deiodination defect
Health Risk
RS121918138
Likely pathogenic
Iodotyrosine deiodination defect, IYD-related disorder, Iodotyrosine deiodination defect
Health Risk
RS121918139
Likely pathogenic
Iodotyrosine deiodination defect, Iodotyrosine deiodination defect
Health Risk
RS1052959039
Pathogenic
Iodotyrosine deiodination defect, Iodotyrosine deiodination defect
Health Risk
RS121918140
Pathogenic/Likely pathogenic
Iodotyrosine deiodination defect, Iodotyrosine deiodination defect
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146905706 | Health Risk | Conflicting classifications of pathogenicity | IYD-related disorder, IYD-related disorder |
| RS200771803 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763040556 | Health Risk | Conflicting classifications of pathogenicity | Iodotyrosine deiodination defect, Iodotyrosine deiodination defect |
| RS863223276 | Health Risk | Conflicting classifications of pathogenicity | Iodotyrosine deiodination defect, IYD-related disorder, Iodotyrosine deiodination defect |
| RS121918138 | Health Risk | Likely pathogenic | Iodotyrosine deiodination defect, IYD-related disorder, Iodotyrosine deiodination defect |
| RS121918139 | Health Risk | Likely pathogenic | Iodotyrosine deiodination defect, Iodotyrosine deiodination defect |
| RS1052959039 | Health Risk | Pathogenic | Iodotyrosine deiodination defect, Iodotyrosine deiodination defect |
| RS121918140 | Health Risk | Pathogenic/Likely pathogenic | Iodotyrosine deiodination defect, Iodotyrosine deiodination defect |