DIO3

Name

iodothyronine deiodinase 3

Type

protein-coding

Position

101,560,139–101,563,452 (+)

Aliases

5DIII, D3, DIOIII, TXDI3

Ensembl

ENSG00000197406

RefSeq RNA

NM_001362.4

RefSeq protein

NP_001353.4

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 pregnant uterus, placenta, fetal and neonatal tissues, and thought to prevent premature exposure of developing fetal tissues to adult levels of thyroid hormones. It regulates circulating fetal thyroid hormone concentrations, and thus plays a critical role in mammalian development. Knockout mice lacking this gene exhibit abnormalities related to development and reproduction, and increased activity of this enzyme in infants with hemangiomas causes severe hypothyroidism. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, May 2016].

via MyGene.info

Gene · Ensembl

iodothyronine deiodinase 3

Symbol

DIO3

Biotype

Protein coding

Organism

Homo sapiens

Location

14:101,560,139-101,563,452

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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