IYD - iodotyrosine deiodinase Gene

Homo sapiens

Also known as TDH4; IYD-1; DEHAL1; C6orf71

Gene ID: 389434 | Gene type: protein coding

About IYD

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:150,369,012-150,405,969 (from NCBI)

This gene has 9 transcripts (splice variants), 192 orthologues and is associated with 2 phenotypes. Restricted expression toward thyroid (RPKM 256.4).

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]

IYD Products(4)

mRNA	Protein	Name
NM_001164694.2	NP_001158166.1	iodotyrosine deiodinase 1 isoform 1
NM_001164695.2	NP_001158167.1	iodotyrosine deiodinase 1 isoform 3
NM_001318495.2	NP_001305424.1	iodotyrosine deiodinase 1 isoform 4
NM_203395.3	NP_981932.1	iodotyrosine deiodinase 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables FMN binding	IDA IDA: Inferred from direct assay	25395621	GOA
enables iodotyrosine deiodinase activity	IDA IDA: Inferred from direct assay	15289438	GOA
enables iodotyrosine deiodinase activity	IMP IMP: Inferred from mutant phenotype	18434651	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in thyroid hormone metabolic process	IDA IDA: Inferred from direct assay	25395621	GOA
involved in tyrosine metabolic process	IDA IDA: Inferred from direct assay	25395621	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasmic vesicle membrane	IDA IDA: Inferred from direct assay	15289438	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15289438	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IYD Protein Structure

Nitroreductase

0
100
200
289 a.a.

Protein Preferred Names

Protein Names

iodotyrosine deiodinase 1

iodotyrosine dehalogenase 1

Related Diseases

Diseases

Alias

Thyroid Dyshormonogenesis 4

Deiodinase Deficiency	TDH4
Iodotyrosine Dehalogenase Deficiency	Thyroid Hormonogenesis, Genetic Defect In, 4
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 4	Genetic Defect In Thyroid Hormonogenesis 4
Chdh4	Congenital Hypothyroidism Due To Dyshormonogenesis Type 4
Genetic Defect In Thyroid Hormonogenesis Type 4

Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter

Hypothyroidism

Thyroid Diseases	Thyroid Disease
Thyroid Deficiency	Thyroid Insufficiency
Dysfunction Thyroid	Thyroid Dysfunction

Goiter

Goitre

Congenital Hypothyroidism

Cretinism	Neonatal Hypothyroidism
Ch	Cht
Congenital Myxedema	Myxedema, Congenital
Endemic Cretinism	Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome	Congenital Iodine-Deficiency Hypothyroidism Nos

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate

Bamforth-Lazarus Syndrome	Bamforth Syndrome
Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate	Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome	Hypothyroidism-Cleft Palate Syndrome
BLS	Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate

Thyroid Malformation

Dyshormonogenic Goiter

Dyshormonogenic Goitre

Endemic Goiter

Iodine-Deficiency-Related Endemic Goitre	Simple Goitre
Goiter, Endemic	Euthyroid Goiter

Cervical Neuroblastoma

Hypothyroidism, Congenital, Nongoitrous, 1

Tsh Resistance	CHNG1
Hypothyroidism Due To Tsh Receptor Mutations	Thyrotropin Resistance
Thyroid-Stimulating Hormone	Rtsh
Hypothyroidism Due To Unresponsiveness To Thyrotropin	Congenital Nongoitrous Hypothyroidism 1
Thyroid-Stimulating Hormone, Resistance To	Hypothyroidism, Nonautoimmune
Hypothyroidism, Congenital, Due To Tsh Resistance	Hypothyroidism, Congenital, Non-Goitrous, 1
Congenital Hypothyroidism Due To Tsh Resistance	Non-Autoimmune Hypothyroidism
Thyroid-Stimulating Hormone Resistance	Hypothyroidism, Congenital, Nongoitrous, Type 1
Hypothyroidism, Congenital, Nongoitrous, 3	Thyroid Hormone Resistance Syndrome

Extracranial Neuroblastoma

Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism

Neonatal Diabetes Mellitus With Congenital Hypothyroidism	Ndh Syndrome
NDH	Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome

Pendred Syndrome

Goiter-Deafness Syndrome	Deafness With Goiter
PDS	Thyroid Dyshormonogenesis 2b
Tdh2b	Autosomal Recessive Sensorineural Hearing Impairment And Goiter
Pendred'S Syndrome	Thyroid Hormonogenesis, Genetic Defect In, 2b
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b	Congenital Hypothyroidism Due To Dyshormonogenesis 2b
Genetic Defect In Thyroid Hormonogenesis 2b	Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
Goiter-Hearing Loss Syndrome	Goitre-Deafness Syndrome
Goitre Deafness

Thyroid Gland Disease

Abnormality Of The Thyroid Gland

Thyroid Diseases

Umbilical Hernia

Hernia, Umbilical

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07003	IYD Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	IYD	VGNC	VGNC:30355
Mus musculus	IYD	MGD	MGI:1917587
Canis familiaris	IYD	VGNC	VGNC:42164
Macaca mulatta	IYD	VGNC	VGNC:73635
Rattus norvegicus	IYD	RGD	RGD:1309288
Felis catus	IYD	VGNC	VGNC:62991

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