IYD

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]

Description

Iodotyrosine deiodinase

Tissue specificity

Tissue enriched (thyroid gland)

Subcell location

Plasma membrane

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (150368892 - 150405969)

Ensembl ID

ENSG00000009765  (ver. 103.38)

Orthologs

Mouse Iyd: ENSMUSG00000019762

UniProt

Q6PHW0

neXtProt

NX_Q6PHW0

Human splice variants
Mouse splice variants

Protein structure