WDR45 Gene
protein-coding GIFtS: 47
GCID: GC0XM048929
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|
WD repeat domain 45(Previous names: WD repeat domain, X-linked 1 ) (Previous symbol: WDRX1)
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Aliases for WDR45 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| WD Repeat Domain 451 2 | | WD Repeat-Containing Protein 452 3 | | WDRX11 2 3 | | JM51 | | WIPI41 2 3 | | Neurodegeneration With Brain Iron Accumulation 42 | | NBIA41 2 | | WD Repeat Domain Phosphoinositide-Interacting Protein 42 | | WD Repeat Domain, X-Linked 11 2 | | WD45 Repeat Protein Interacting With Phosphoinositides 42 | | WIPI-42 3 | | WDRXI43 |
Export aliases for WDR45 gene to outside databasesPrevious GC identifers: GC0XM048688 GC0XM048819 GC0XM046588 |
Summaries for WDR45 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 WDR45: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric ormultiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycleprogression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3.Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but thebiological validity and full-length nature of some variants have not been determined. (provided by RefSeq, Jul 2008) Gene Wiki entry for WDR45
|
Genomic Views for WDR45 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_000023.10 NC_018934.1 NT_079573.4
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the WDR45 gene promoter: E2F-4 E2F-3a STAT1 E2F-5 E2F-2 Tal-1beta STAT1alpha E47 E2F E2F-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for WDR45
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WDR45 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp11.23 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.23WDR45 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM048929: view genomic region
(about GC identifiers)
Start:
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48,929,385 bp from pter |
End:
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48,958,108 bp from pter |
Size:
|
28,724 bases |
Orientation:
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minus strand |
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Proteins for WDR45 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: WIPI4_HUMAN, Q9Y484 (See
protein sequence)Recommended Name: WD repeat domain phosphoinositide-interacting protein 4 Size: 360 amino acids; 39868 Da
Secondary accessions: A6NGH5 B7WPI2 Q5MNZ5 Q6IBS7 Q6NT94 Q96H03Alternative splicing: 3 isoforms: Q9Y484-1 Q9Y484-2 Q9Y484-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for WDR45: NX_Q9Y484
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y484 WDR45 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001025067.1 NP_009006.2 ENSEMBL proteins: ENSP00000365551 ENSP00000419453 ENSP00000365543 ENSP00000348848 ENSP00000419897 ENSP00000356345 ENSP00000417211 ENSP00000365546 ENSP00000379913 ENSP00000417754 ENSP00000418466 ENSP00000418919 ENSP00000420728 ENSP00000393640 ENSP00000419324 ENSP00000420534 ENSP00000397657 ENSP00000451962 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
IBA | -- |
WDR45 for ontologies About GeneDecksing
WDR45 Antibody Products: Assay Products for WDR45: |
Protein
Domains / Families for WDR45 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
WDR45 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y484ProtoNet protein and cluster: Q9Y484 UniProtKB/Swiss-Prot: WIPI4_HUMAN, Q9Y484Similarity: Belongs to the WD repeat SVP1 familySimilarity: Contains 3 WD repeats |
Function for WDR45 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
|
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 WDR45 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WDR45 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for WDR45 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR45  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR45 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005083 | small GTPase regulator activity |
-- | -- | | GO:0032266 | phosphatidylinositol-3-phosphate binding |
IBA | -- | | GO:0080025 | phosphatidylinositol-3,5-bisphosphate binding |
IBA | -- |
WDR45 for ontologies About GeneDecksing
|
Pathways & Interactions for WDR45 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
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WDR45
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
 5/309 Interacting proteins for WDR45 (Q9Y4843 ENSP000003488484) via UniProtKB, MINT, STRING, and/or I2D (see all 309)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000045 | autophagic vacuole assembly |
IBA | -- |
WDR45 for ontologies About GeneDecksing
|
Drugs & Compounds for WDR45 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 WDR45 Search CenterWatch for drugs/clinical trials and news about WDR45 / WIPI4 
|
Transcripts for WDR45 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 WDR45 gene (2 alternative transcripts): NM_001029896.1 NM_007075.3 Unigene Cluster for WDR45: WD repeat domain 45 Hs.632807 [show with all ESTs]Unigene Representative Sequence: BC03597918/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28): ENST00000465806(uc004dmj.1 uc004dmn.1 uc004dmp.1) ENST00000376372(uc004dmk.1 uc004dml.1) ENST00000470270(uc011mmu.2) ENST00000486337 ENST00000322995 ENST00000356463 ENST00000485908 ENST00000367375 ENST00000433252 ENST00000473974 ENST00000376368 ENST00000396681 ENST00000474217 ENST00000475977 ENST00000480412 ENST00000471338 ENST00000472654 ENST00000475880
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WDR45 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WDR45 (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 2): WDR45 (NM_007075) | |  | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AJ005897.1 AK023344.1 AK225122.1 AK301084.1 AK315717.1 AY691428.1 BC000464.2 BC003037.1 BC009027.1 BC035979.1 BC069206.1 CR456725.1 19 DOTS entries: DT.455388 DT.92435693 DT.40249386 DT.97816224 DT.95358721 DT.100817695 DT.92020572 DT.121290070 DT.97859431 DT.121290043 DT.95077499 DT.121290027 DT.100817693 DT.121262060 DT.121290014 DT.121290029 DT.95123900 DT.91877747 DT.92036934 24/273 AceView cDNA sequences (see all 273): CB160787 BM705389 AA324244 CR456725 CR608446 BQ718469 BM794614 AI521747 AI301179 CR594026 CB127042 BF985223 BM013712 BC000464 BC003037 BG749127 CR604542 CA306278 AA436357 CA437829 CB162777 CB141491 BM763260 BM688724 GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for WDR45 (see all 13) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   |
| ExUns: | 14b | ^ | 15a | · | 15b | · | 15c | ^ | 16 | |
| SP1: | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |
| SP3: | - |   | |   | |   | |   | |   | |
| SP4: | - |   | |   | |   | |   | |   | |
| SP5: | - |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for WDR45
|
Expression for WDR45 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
| WDR45 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ACAAGATCGT
About this image See WDR45 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for WDR45
SOURCE GeneReport for Unigene cluster: Hs.632807 UniProtKB/Swiss-Prot: WIPI4_HUMAN, Q9Y484Tissue specificity: Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed inliver and placenta. Expression is down-regulated in pancreatic and in kidney tumors SABiosciences Custom PCR Arrays for WDR45
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WDR45 Browse OriGene validated miRNA SYBR primer pairs
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| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR45 |
Orthologs for WDR45 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 eukaryotes.
Orthologs for WDR45 gene from 7/23 species (see all 23) About this table
ENSEMBL Gene Tree for WDR45 (if available) TreeFam Gene Tree for WDR45 (if available)  |
Paralogs for WDR45 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for WDR45 gene
- WIPI12 WDR45B2 WIPI22
5 SIMAP similar genes for WDR45 using alignment to 16 protein entries: WIPI4_HUMAN (see all proteins):PRAF2 ARL6IP5 WIPI1 WDR45L WDR45B
WDR45 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for WDR45 PGOHUM00000246104
|
Genomic Variants for WDR45 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 X pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for WDR45 (48929385 - 48958108 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for WDR45 2 CNVs: 73972 7789  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WDR45 |
|
Disorders
/ Diseases for WDR45 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
|
WDR45 for disorders About GeneDecksing
OMIM gene information: 300526
OMIM disorders: --
2 diseases for WDR45: About MalaCardspancreatitis malaria Export disorders for WDR45 gene to outside databases
|
Publications for WDR45 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 WDR45 gene, integrated from 9 sources (see all 15): (articles sorted by number of sources associating them with WDR45) | |  | Utopia: connect your pdf to the dynamic world of online information |
- 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)
- WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy. (PubMed id 15602573)1, 2 Proikas-Cezanne T....Nordheim A. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Exome sequencing reveals de novo WDR45 mutations causi ng a phenotypically distinct, X-linked dominant form of NBIA. (PubMed id 23176820)1 Haack T.B....Hayflick S.J. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
- An assembly chaperone collaborates with the SMN compl ex to generate spliceosomal SnRNPs. (PubMed id 18984161)1 Chari A....Fischer U. (2008)
- Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1 Meierhofer D.... Kaiser P. (2008)
|
External Searches for WDR45 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing WDR45 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing WDR45 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing WDR45 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 WDR45 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for WDR45 gene: Search GeneIP for patents involving WDR45
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for WDR45 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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 |
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 | | WDR45 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR45 |
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