IYD (Iodotyrosine Deiodinase)
Key enzyme in thyroid hormone metabolism and recycling of iodide
Gene Information Card
| Symbol | IYD |
|---|---|
| Full Name | Iodotyrosine Deiodinase |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.1 |
| NCBI Gene ID | 389434 ncbi.nlm.nih.gov/gene/389434 |
| Ensembl ID | ENSG00000188827 |
| UniProt ID | Q6PHW0 |
| OMIM ID | 612025 |
| HGNC ID | 28916 |
| Aliases | DEHAL1, FLJ20489 |
Description
The IYD gene encodes iodotyrosine deiodinase, a flavoprotein that catalyzes the deiodination of monoiodotyrosine (MIT) and diiodotyrosine (DIT) to recycle iodide within the thyroid gland. This enzyme is essential for efficient iodide conservation and normal thyroid hormone synthesis. Mutations in IYD can lead to congenital hypothyroidism due to iodide recycling defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital hypothyroidism due to iodide recycling defect | Loss-of-function mutations impair deiodination of MIT/DIT, reducing iodide availability for thyroid hormone synthesis | OMIM #274900; ClinVar pathogenic variants |
| Thyroid dyshormonogenesis | Defective IYD activity leads to goiter and hypothyroidism with elevated MIT/DIT in urine | Case reports in literature; OMIM 612025 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.5 | High |
| Liver | 1.2 | Low |
| Kidney | 0.8 | Low |
| Small intestine | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Thyroid follicular epithelial cells | 12.5 | Primary site of expression |
| HepG2 | 0.3 | Low expression |
| HEK293 | 0.1 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.658C>T (p.Arg220*) | Nonsense | Rare | Loss of function; truncated protein |
| c.266A>G (p.Tyr89Cys) | Missense | Rare | Reduced enzymatic activity |
| c.370G>A (p.Gly124Ser) | Missense | Rare | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Most reported IYD mutations are loss-of-function, leading to reduced deiodinase activity and impaired iodide recycling.
Gain of Function (GOF)
No gain-of-function mutations have been described for IYD.
Dominant Negative (DN)
No dominant-negative effects have been reported; IYD deficiency is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • iodotyrosine deiodinase activity (GO:0050112) | • mitochondrion (GO:0005739) |
| • cytosol (GO:0005829) | • thyroid hormone generation (GO:0006590) |
| • cell redox homeostasis (GO:0045454) |
Pathways
• Thyroid hormone synthesis (Reactome: R-HSA-209968)
• Iodide recycling (KEGG: hsa04918)
Protein Summary
Iodotyrosine deiodinase is a 289-amino acid flavoprotein that localizes to the mitochondria and cytosol of thyroid follicular cells. It uses FMN as a cofactor to reductively deiodinate MIT and DIT, releasing iodide for reuse in thyroglobulin iodination. The enzyme is critical for iodide economy and thyroid hormone homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IYD Knockout HEK293 Cell Line | EDJ-KQ13873 | Human | 389434 | Details Get a Quote |
| IYD Knockout HeLa Cell Line | EDJ-KQ60088 | Human | 389434 | Details Get a Quote |
| IYD Knockout A-549 Cell Line | EDJ-KQ68550 | Human | 389434 | Details Get a Quote |
| IYD Knockout HCT 116 Cell Line | EDJ-KQ76926 | Human | 389434 | Details Get a Quote |
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