| Entrez Gene ID | 389434 |
|---|---|
| Official Gene Symbol | IYD (GeneCards) |
| Full name | iodotyrosine deiodinase |
| Location | 6q25.1 |
| Other ids | Vega : OTTHUMG00000016347 MIM : 612025 HGNC : HGNC:21071 Ensembl : ENSG00000009765 |
| Other names | TDH4, IYD-1, DEHAL1, C6orf71 |
| Summary | 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] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 9454 | 389434 | IYD | 6 | 150808046 | 150808046 | Asymptomatic | HiSeq X Ten |
| 10032 | 389434 | IYD | 6 | 150750388 | 150750388 | Asymptomatic | HiSeq X Ten |
| 10090 | 389434 | IYD | 6 | 150836192 | 150836192 | Cockayne syndrome | HiSeq X Ten |
| 29398 | 389434 | IYD | 6 | 150690237 | 150690237 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |
| 29793 | 389434 | IYD | 6 | 150710567 | 150710567 | Autism Spectrum Disorders | HiSeq X Ten MiSeq NextSeq500 |