Aliases for DIO3 Gene
External Ids for DIO3 Gene
Previous HGNC Symbols for DIO3 Gene
Previous GeneCards Identifiers for DIO3 Gene
The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in the pregnant uterus, placenta, fetal and neonatal tissues, suggesting that it plays an essential role in the regulation of thyroid hormone inactivation during embryological development. This protein contains a selenocysteine (Sec) residue, which is essential for efficient enzyme activity. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]
GeneCards Summary for DIO3 Gene
DIO3 (Deiodinase, Iodothyronine, Type III) is a Protein Coding gene. Diseases associated with DIO3 include familial partial lipodystrophy and hepatocellular carcinoma. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include thyroxine 5-deiodinase activity and thyroxine 5-deiodinase activity. An important paralog of this gene is DIO2.
UniProtKB/Swiss-Prot for DIO3 Gene
Responsible for the deiodination of T4 (3,5,3,5-tetraiodothyronine) into RT3 (3,3,5-triiodothyronine) and of T3 (3,5,3-triiodothyronine) into T2 (3,3-diiodothyronine). RT3 and T2 are inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation. Essential role for regulation of thyroid hormone inactivation during embryological development.