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 deficie... See more...

Aliases for IYD Gene

Aliases for IYD Gene

  • Iodotyrosine Deiodinase 2 3 5
  • DEHAL1 2 3 4
  • Iodotyrosine Dehalogenase 1 3 4
  • Iodotyrosine Deiodinase 1 3 4
  • C6orf71 3 4
  • IYD-1 3 4
  • Chromosome 6 Open Reading Frame 71 2
  • EC 1.21.1.1 4
  • DJ422F24.1 2
  • TDH4 3
  • IYD 5

External Ids for IYD Gene

Previous HGNC Symbols for IYD Gene

  • C6orf71

Previous GeneCards Identifiers for IYD Gene

  • GC06P150731
  • GC06P148255

Summaries for IYD Gene

Entrez Gene Summary for IYD Gene

  • 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]

GeneCards Summary for IYD Gene

IYD (Iodotyrosine Deiodinase) is a Protein Coding gene. Diseases associated with IYD include Thyroid Dyshormonogenesis 4 and Familial Thyroid Dyshormonogenesis. Among its related pathways are Aldosterone synthesis and secretion and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and iodide peroxidase activity.

UniProtKB/Swiss-Prot Summary for IYD Gene

  • Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT) (PubMed:15289438, PubMed:25395621, PubMed:18434651). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways (PubMed:18434651). Acts more efficiently on monoiodotyrosine than on diiodotyrosine (PubMed:15289438).

Gene Wiki entry for IYD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IYD Gene

Genomics for IYD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IYD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J150368 Promoter/Enhancer 1.1 EPDnew ENCODE 250.7 -0.1 -55 1.6 ATF3 YY1 MXD4 ZFP64 HOMEZ FOXA2 SMAD4 RXRA RARA GABPB1 HSALNG0054312 IYD HSALNG0054308-002 PPP1R14C
GH06J150403 Enhancer 1 Ensembl ENCODE 16.4 +34.9 34916 1.3 ZNF600 ZNF580 ATF2 ZNF10 FEZF1 ZNF639 ZNF341 ZEB1 KLF9 ZNF610 IYD lnc-ULBP3-4 lnc-IYD-4 SSR1P1 HSALNG0054313 PLEKHG1
GH06J150292 Enhancer 1.1 Ensembl ENCODE dbSUPER 11 -75.1 -75142 3.4 IKZF1 ZNF592 NFE2 JUND ATF1 ZNF318 SMARCA4 EHMT2 EP400 FOXK2 RNU4-7P IYD RAET1E lnc-IYD-3 LOC105378054 lnc-PPP1R14C-1 PPP1R14C
GH06J150296 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.1 -71.3 -71291 1.9 CEBPB SP2 TBP USF2 ZBTB48 MLLT1 CBX1 RAD51 EP400 NRF1 RNU4-7P LATS1 IYD RAET1E BTF3P10 lnc-IYD-3 LOC105378054 lnc-PPP1R14C-1 PPP1R14C
GH06J150299 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.7 -67.3 -67321 4.1 IRF4 FOSL2 JUND ATF1 ZBTB40 BATF ZNF24 ZBTB33 ZNF362 JUNB RNU4-7P IYD lnc-IYD-3 LOC105378054 lnc-PPP1R14C-1 PPP1R14C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IYD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IYD

Top Transcription factor binding sites by QIAGEN in the IYD gene promoter:
  • C/EBPalpha
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP
  • TFIID

Genomic Locations for IYD Gene

Latest Assembly
chr6:150,368,854-150,405,969
(GRCh38/hg38)
Size:
37,116 bases
Orientation:
Plus strand

Previous Assembly
chr6:150,690,148-150,727,105
(GRCh37/hg19 by Entrez Gene)
Size:
36,958 bases
Orientation:
Plus strand

chr6:150,690,028-150,727,105
(GRCh37/hg19 by Ensembl)
Size:
37,078 bases
Orientation:
Plus strand

Genomic View for IYD Gene

Genes around IYD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IYD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IYD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IYD Gene

Proteins for IYD Gene

  • Protein details for IYD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PHW0-IYD1_HUMAN
    Recommended name:
    Iodotyrosine deiodinase 1
    Protein Accession:
    Q6PHW0
    Secondary Accessions:
    • C9JFW2
    • Q2VPW0
    • Q2VPW1
    • Q5F1L5
    • Q5F1L6
    • Q5THM4
    • Q6ZP69
    • Q7Z7D7
    • Q7Z7D8

    Protein attributes for IYD Gene

    Size:
    289 amino acids
    Molecular mass:
    33360 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAY41467.1; Type=Erroneous translation; Evidence={ECO:0000305}; Sequence=BAC85255.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IYD Gene

    Alternative splice isoforms for IYD Gene

neXtProt entry for IYD Gene

Post-translational modifications for IYD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IYD Gene

Domains & Families for IYD Gene

Gene Families for IYD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for IYD Gene

InterPro:
Blocks:
  • Nitroreductase family

Suggested Antigen Peptide Sequences for IYD Gene

GenScript: Design optimal peptide antigens:
  • Iodotyrosine dehalogenase 1 (IYD1_HUMAN)
  • Iodotyrosine dehalogenase 1 isoform G (Q2VPV9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PHW0

UniProtKB/Swiss-Prot:

IYD1_HUMAN :
  • Belongs to the nitroreductase family.
Family:
  • Belongs to the nitroreductase family.
genes like me logo Genes that share domains with IYD: view

Function for IYD Gene

Molecular function for IYD Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT) (PubMed:15289438, PubMed:25395621, PubMed:18434651). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways (PubMed:18434651). Acts more efficiently on monoiodotyrosine than on diiodotyrosine (PubMed:15289438).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 iodide + L-tyrosine + 2 NADP(+) = 3,5-diiodo-L-tyrosine + H(+) + 2 NADPH; Xref=Rhea:RHEA:32479, ChEBI:CHEBI:15378, ChEBI:CHEBI:16382, ChEBI:CHEBI:57506, ChEBI:CHEBI:57783, ChEBI:CHEBI:58315, ChEBI:CHEBI:58349; EC=1.21.1.1; Evidence={ECO:0000269|PubMed:15289438, ECO:0000269|PubMed:18434651, ECO:0000269|PubMed:25395621};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.67 uM for L-DIT {ECO:0000269|PubMed:15289438}; KM=1.35 uM for L-MIT {ECO:0000269|PubMed:15289438};

Enzyme Numbers (IUBMB) for IYD Gene

Phenotypes From GWAS Catalog for IYD Gene

Gene Ontology (GO) - Molecular Function for IYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004447 iodide peroxidase activity IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0010181 FMN binding IDA 25395621
GO:0016491 oxidoreductase activity IEA,IDA 25395621
genes like me logo Genes that share ontologies with IYD: view
genes like me logo Genes that share phenotypes with IYD: view

Human Phenotype Ontology for IYD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IYD

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for IYD Gene

Localization for IYD Gene

Subcellular locations from UniProtKB/Swiss-Prot for IYD Gene

Cell membrane. Single-pass membrane protein. Cytoplasmic vesicle membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IYD gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IBA,IDA 15289438
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IYD: view

Pathways & Interactions for IYD Gene

genes like me logo Genes that share pathways with IYD: view

Pathways by source for IYD Gene

Gene Ontology (GO) - Biological Process for IYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006570 tyrosine metabolic process IDA 25395621
GO:0006590 thyroid hormone generation TAS --
GO:0042403 thyroid hormone metabolic process IBA,IDA 25395621
GO:0055114 oxidation-reduction process IEA --
GO:0098869 cellular oxidant detoxification IEA --
genes like me logo Genes that share ontologies with IYD: view

No data available for SIGNOR curated interactions for IYD Gene

Drugs & Compounds for IYD Gene

(6) Drugs for IYD Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flavin mononucleotide Approved, Investigational Pharma 14
Iodide Approved, Experimental Pharma 0
Tyrosine Approved, Investigational Nutra 1149
3,5-Diiodotyrosine Experimental Pharma Target 0
NADP Experimental Pharma 0

(1) Additional Compounds for IYD Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
I(-)
  • [HI]
  • HI
  • Hydriodic acid
  • Hydrogeniodid
  • Hydroiodic acid
genes like me logo Genes that share compounds with IYD: view

Transcripts for IYD Gene

mRNA/cDNA for IYD Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IYD

Alternative Splicing Database (ASD) splice patterns (SP) for IYD Gene

No ASD Table

Relevant External Links for IYD Gene

GeneLoc Exon Structure for
IYD

Expression for IYD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IYD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IYD Gene

This gene is overexpressed in Thyroid (x48.4).

Protein differential expression in normal tissues from HIPED for IYD Gene

This gene is overexpressed in Thyroid (55.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IYD Gene



Protein tissue co-expression partners for IYD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IYD

SOURCE GeneReport for Unigene cluster for IYD Gene:

Hs.310225

mRNA Expression by UniProt/SwissProt for IYD Gene:

Q6PHW0-IYD1_HUMAN
Tissue specificity: Expressed at a high level in thyroid gland (at protein level). Expressed at a high level in thyroid gland and at lower level in kidney and trachea.

Evidence on tissue expression from TISSUES for IYD Gene

  • Thyroid gland(4.7)
  • Kidney(4.4)
  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IYD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
Pelvis:
  • ovary
  • rectum
  • urinary bladder
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with IYD: view

Orthologs for IYD Gene

This gene was present in the common ancestor of animals.

Orthologs for IYD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IYD 29 30
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IYD 29 30
  • 86.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IYD 29 30
  • 85.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Iyd 29 16 30
  • 84.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Iyd 29
  • 83.39 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia IYD 30
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IYD 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IYD 29 30
  • 73.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IYD 30
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia iyd 29
  • 67.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100330940 29
  • 65.85 (n)
IYD (1 of 2) 30
  • 52 (a)
OneToMany
iyd 30
  • 52 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5108 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG6279 29 30
  • 55.65 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005435 29
  • 52.19 (n)
Worm
(Caenorhabditis elegans)
Secernentea C02C2.5 29 30
  • 48.09 (n)
OneToOne
Species where no ortholog for IYD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for IYD Gene

ENSEMBL:
Gene Tree for IYD (if available)
TreeFam:
Gene Tree for IYD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IYD: view image
Alliance of Genome Resources:
Additional Orthologs for IYD

Paralogs for IYD Gene

(1) SIMAP similar genes for IYD Gene using alignment to 5 proteins:

  • IYD1_HUMAN
  • C9JXJ9_HUMAN
  • F5H543_HUMAN
  • F6VN83_HUMAN
  • H7C0X6_HUMAN
genes like me logo Genes that share paralogs with IYD: view

No data available for Paralogs for IYD Gene

Variants for IYD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IYD Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1030475 Pathogenic: Iodotyrosine deiodination defect 150,394,186(+) GA/G
NM_203395.3(IYD):c.624del (p.Val209fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
1031821 Pathogenic: Iodotyrosine deiodination defect 150,394,240(+) GC/G
NM_203395.3(IYD):c.673del (p.Leu224_Leu225insTer)
NONSENSE,NON_CODING_TRANSCRIPT
rs111758467 Benign: not provided 150,389,496(+) A/G
NM_203395.3(IYD):c.323A>G (p.Asn108Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs11268976 Benign: Congenital hypothyroidism 150,402,911(+) A/ACTGGGGGTGATTC
NM_203395.3(IYD):c.*4676_*4677insGGGGGTGATTCACCT
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
rs1174632537 Likely Benign: not provided 150,389,500(+) G/A
NM_203395.3(IYD):c.327G>A (p.Glu109=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IYD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IYD Gene

Variant ID Type Subtype PubMed ID
esv1485241 CNV deletion 17803354
esv1594235 CNV deletion 17803354
esv2625832 CNV insertion 19546169
esv2732880 CNV deletion 23290073
esv2732881 CNV deletion 23290073
esv2732882 CNV deletion 23290073
esv2732883 CNV deletion 23290073
esv2732885 CNV deletion 23290073
esv2732886 CNV deletion 23290073
esv2763602 CNV loss 21179565
esv3540631 CNV deletion 23714750
nsv1109824 CNV deletion 24896259
nsv464078 CNV loss 19166990
nsv604849 CNV loss 21841781
nsv819256 CNV gain 19587683
nsv830843 CNV gain+loss 17160897

Variation tolerance for IYD Gene

Residual Variation Intolerance Score: 78.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.12; 69.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IYD Gene

Human Gene Mutation Database (HGMD)
IYD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IYD
Leiden Open Variation Database (LOVD)
IYD

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IYD Gene

Disorders for IYD Gene

MalaCards: The human disease database

(13) MalaCards diseases for IYD Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 4
  • tdh4
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
hypothyroidism
  • thyroid deficiency
congenital hypothyroidism
  • neonatal hypothyroidism
goiter
  • goitre
- elite association - COSMIC cancer census association via MalaCards
Search IYD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IYD1_HUMAN
  • Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]: A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism. {ECO:0000269 PubMed:18434651}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for IYD

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IYD: view

No data available for Genatlas for IYD Gene

Publications for IYD Gene

  1. Iodotyrosine dehalogenase 1 (DEHAL1) is a transmembrane protein involved in the recycling of iodide close to the thyroglobulin iodination site. (PMID: 15289438) Gnidehou S … Dupuy C (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004) 2 3 4 22
  2. Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. (PMID: 18765512) Afink G … Ris-Stalpers C (The Journal of clinical endocrinology and metabolism 2008) 3 22 72
  3. Mutations in the iodotyrosine deiodinase gene and hypothyroidism. (PMID: 18434651) Moreno JC … Visser TJ (The New England journal of medicine 2008) 3 4 72
  4. A switch between one- and two-electron chemistry of the human flavoprotein iodotyrosine deiodinase is controlled by substrate. (PMID: 25395621) Hu J … Rokita SE (The Journal of biological chemistry 2015) 3 4
  5. Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations. (PMID: 20298747) Moreno JC … Visser TJ (Molecular and cellular endocrinology 2010) 3 22

Products for IYD Gene

Sources for IYD Gene