IYD Gene
protein-coding GIFtS: 55
GCID: GC06P150731
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iodotyrosine deiodinase(Previous name: chromosome 6 open reading frame 71 ) (Previous symbol: C6orf71)
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Aliases for IYD gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Iodotyrosine Deiodinase1 2 | | TDH42 5 | | DEHAL11 2 3 5 | | Chromosome 6 Open Reading Frame 711 | | C6orf711 2 3 | | Iodotyrosine Dehalogenase 12 | | DJ422F24.11 | | EC 1.22.1.13 | | IYD-12 3 | | |
Export aliases for IYD gene to outside databasesPrevious GC identifer: GC06P148255 |
Summaries for IYD gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for 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 amembrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is alsoreferred 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) UniProtKB/Swiss-Prot: IYD1_HUMAN, Q6PHW0Function: Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT).Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways.Acts more efficiently on monoiodotyrosine than on diiodotyrosine Gene Wiki entry for IYD (Iodotyrosine deiodinase)
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Genomic Views for IYD gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_025741.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the IYD gene promoter: COUP-TF1 TBP COUP HNF-4alpha2 HNF-4alpha1 C/EBPalpha PPAR-gamma1 COUP-TF TFIID PPAR-gamma2 Other transcription factors
Search SABiosciences Chromatin IP Primers for IYD
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IYD |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6q25.1 Ensembl cytogenetic band: 6q25.1 HGNC cytogenetic band: 6q25.1IYD Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P150731: view genomic region
(about GC identifiers)
Start:
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150,690,028 bp from pter |
End:
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150,727,105 bp from pter |
Size:
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37,078 bases |
Orientation:
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plus strand |
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Proteins for IYD gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: IYD1_HUMAN, Q6PHW0 (See
protein sequence)Recommended Name: Iodotyrosine dehalogenase 1 precursor Size: 289 amino acids; 33360 Da
Cofactor: FMN (Probable)
Subunit: Homodimer (By similarity)
Subcellular location: Cell membrane; Single-pass membrane protein
Sequence caution: Sequence=AAY41467.1; Type=Erroneous translation; Sequence=BAC85255.1; Type=Erroneous initiation;Note=Translation N-terminally extended; Sequence=CAI20537.1; Type=Erroneous gene model prediction;
Secondary accessions: Q2VPW0 Q2VPW1 Q5F1L5 Q5F1L6 Q5THM4 Q6ZP69 Q7Z7D7 Q7Z7D8Alternative splicing: 6 isoforms: Q6PHW0-1 Q6PHW0-3 Q6PHW0-4 Q6PHW0-5 Q6PHW0-6 Q6PHW0-7 Explore the universe of human proteins at neXtProt for IYD: NX_Q6PHW0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6PHW0 IYD Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001158166.1 NP_001158167.1 NP_981932.1 ENSEMBL proteins: ENSP00000229447 ENSP00000343763 ENSP00000356304 ENSP00000376085 ENSP00000376084 ENSP00000441276 ENSP00000397342 ENSP00000390081 Reactome Protein details: Q6PHW0 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005886 | plasma membrane |
TAS | -- | | GO:0016021 | integral to membrane |
IEA | -- |
IYD for ontologies About GeneDecksing
IYD Antibody Products: Assay Products for IYD: |
Protein
Domains / Families for IYD gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
IYD for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q6PHW0ProtoNet protein and cluster: Q6PHW0 1 Blocks protein family: IPB000415 Nitroreductase family
UniProtKB/Swiss-Prot: IYD1_HUMAN, Q6PHW0Similarity: Belongs to the nitroreductase family |
Function for IYD gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: IYD1_HUMAN, Q6PHW0Function: Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT).Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways.Acts more efficiently on monoiodotyrosine than on diiodotyrosineCatalytic activity: L-tyrosine + 2 NADP(+) + 2 I(-) = 3,5-diiodo-L-tyrosine + 2 NADPHBiophysicochemical properties: Kinetic parameters: KM=2.67 uM for L-DIT; KM=1.35 uM for L-MIT;Enzyme Number (IUBMB): EC 1.22.1.11
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IYD (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IYD (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for IYD | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IYD  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IYD |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004447 | iodide peroxidase activity |
-- | -- | | GO:0016491 | oxidoreductase activity |
IEA | -- |
IYD for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for IYD:
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Pathways & Interactions for IYD gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Regulation of thyroid hormone activity | | | 2 | Metabolism of amino acids and derivatives | | | 3 | Metabolism | |
Pathway sources See GeneCards unified pathways Show all pathways
4
Reactome Pathways for IYD
IYD for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IYD
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006590 | thyroid hormone generation |
TAS | -- | | GO:0034641 | cellular nitrogen compound metabolic process |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
IYD for ontologies About GeneDecksing
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Drugs & Compounds for IYD gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for IYD
3 HMDB Compounds for IYD About this table
1 DrugBank Compound for IYD About this table
Search CenterWatch for drugs/clinical trials and news about IYD / IYD1 
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Transcripts for IYD gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for IYD gene (3 alternative transcripts): NM_001164694.1 NM_001164695.1 NM_203395.2 Unigene Cluster for IYD: Iodotyrosine deiodinase Hs.310225 [show with all ESTs]Unigene Representative Sequence: NM_0011646949 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000229447(uc003qnx.2 uc003qnw.2) ENST00000344419(uc003qnv.2 uc003qnu.2 uc010kik.2) ENST00000367335 ENST00000392256 ENST00000392255 ENST00000500320 ENST00000546121 ENST00000422583 ENST00000425615
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IYD (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IYD (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): IYD (NM_203395) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IYD | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IYD  |
Additional cDNA sequence: AK129950.1 AY259176.1 AY259177.1 AY424901.1 AY424902.2 AY957659.1 AY957660.1 AY957661.1 AY957662.1 BC056253.1 5 DOTS entries: DT.429420 DT.212350 DT.75135587 DT.121334150 DT.100724090 24/52 AceView cDNA sequences (see all 52): AY259177 BQ083170 AI627642 BF197599 BE172678 CB163161 H59290 AA862523 AY259176 NM_203395 BF431199 AI823392 AI767686 AI248316 T95890 BG427433 BG426800 AA100295 AI768652 AI985325 AW615276 AW197685 BF476211 BU676096 GeneLoc Exon Structure
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Expression for IYD gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| IYD expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AAAAGTATTA
About this image See IYD Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for IYD
SOURCE GeneReport for Unigene cluster: Hs.310225 UniProtKB/Swiss-Prot: IYD1_HUMAN, Q6PHW0Tissue specificity: Expressed at a high level in thyroid gland and at lower level in kidney and trachea SABiosciences Custom PCR Arrays for IYD
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IYD Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IYD | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IYD | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IYD | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IYD |
Orthologs for IYD gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for IYD gene from 6/18 species (see all 18) About this table
ENSEMBL Gene Tree for IYD (if available) TreeFam Gene Tree for IYD (if available)  |
Paralogs for IYD gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for IYD gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 6 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for IYD (150690028 - 150727105 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 21 variations for IYD 13 CNVs: 81647 94107 94108 94103 94099 81649 81646 4511 94105 81645 94101 94102 94106 8 Indels: 81643 94100 94104 81644 99754 28121 81648 59306 Human Gene Mutation Database (HGMD): IYD
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IYD |
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Disorders
/ Diseases for IYD gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
IYD for disorders About GeneDecksing
OMIM gene information: 612025 OMIM disorders: 274800 UniProtKB/Swiss-Prot: IYD1_HUMAN, Q6PHW0
Defects in IYD are the cause of thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]. A disorder due to thyroiddyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, andvariable mental deficits derived from unrecognized and untreated hypothyroidism 6 diseases for IYD: About MalaCardscongenital hypothyroidism hypothyroidism thyroiditis thyroid dyshormonogenesis 4 croup goiter 2 diseases from the University of Copenhagen DISEASES database for IYD:Congenital hypothyroidism Croup Human Genome Epidemiology (HuGE) Navigator: IYD (1 document) Export disorders for IYD gene to outside databases
|
Publications for IYD gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for IYD gene, integrated from 9 sources (see all 19): (articles sorted by number of sources associating them with IYD) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Iodotyrosine dehalogenase 1 (DEHAL1) is a transmembrane protein involved in the recycling of iodide close to the thyroglobulin iodination site. (PubMed id 15289438)1, 2, 3, 9 Gnidehou S....Dupuy C. (2004)
- Mutations in the iodotyrosine deiodinase gene and hypothyroidism. (PubMed id 18434651)1, 2 Moreno J.C....Visser T.J. (2008)
- Iodotyrosine deiodinase is the first mammalian member of the NADH oxidase/flavin reductase superfamily. (PubMed id 16316988)1, 3 Friedman J.E....Rokita S.E. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
- Characterisation of DEHAL1 expression in thyroid pathologies. (PubMed id 17322488)1, 9 Krause K....Fuhrer D. (2007)
- Cloning and Characterization of a Novel Isoform of Iodotyrosine Dehalogenase 1 (DEHAL1) DEHAL1C from Human Thyroid: Comparisons with DEHAL1 and DEHAL1B. (PubMed id 16910871)1, 9 Gnidehou S....Dupuy C. (2006)
- Crystal structure of iodotyrosine deiodinase, a novel flavoprotein responsible for iodide salvage in thyroid glands. (PubMed id 19436071)1, 9 Thomas S.R....Rokita S.E. (2009)
- Genetics and phenomics of hypothyroidism and goiter d ue to iodotyrosine deiodinase (DEHAL1) gene mutations. (PubMed id 20298747)1, 9 Moreno J.C. and Visser T.J. (2010)
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External Searches for IYD gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing IYD gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing IYD gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing IYD gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for IYD | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for IYD gene: Search GeneIP for patents involving IYD
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for IYD gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | Search Tocris compounds for IYD |
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 | | IYD Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IYD |
|  |  |  | | | ThermoFisher Antibody for IYD |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IYD |
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