ANKLE1 Gene
protein-coding GIFtS: 45
GCID: GC19P017394
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ankyrin repeat and LEM domain containing 1(Previous name: ankyrin repeat domain 41 )
(Previous symbol: ANKRD41)
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Aliases
for ANKLE1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ankyrin Repeat And LEM Domain Containing 11 2 | | LEM-Domain Containing Protein 32 3 | | ANKRD411 2 3 | | FLJ393691 | | LEMD61 2 | | Ankyrin Repeat And LEM Domain-Containing Protein 12 | | Ankyrin Repeat Domain 411 2 | | LEM Domain Containing 62 | | Ankyrin Repeat Domain-Containing Protein 412 3 | | LEM-Domain Containing 32 | | LEM32 3 | | |
Export aliases for ANKLE1 gene to outside databasesPrevious GC identifers: GC19P017255 GC19P016959 |
Summaries
for ANKLE1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for ANKLE1 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_000019.9 NC_018930.1 NT_011295.11
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ANKLE1 gene promoter:
ER-alpha Pax-2 MyoD Pax-2a YY1 CREB deltaCREB LyF-1 Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for ANKLE1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKLE1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.11 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13.11ANKLE1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P017394: view genomic region
(about GC identifiers)
Start:
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17,392,454 bp from pter |
End:
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17,398,455 bp from pter |
Size:
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6,002 bases |
Orientation:
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plus strand |
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Proteins
for ANKLE1 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: ANKL1_HUMAN, Q8NAG6 (See
protein sequence)Recommended Name: Ankyrin repeat and LEM domain-containing protein 1 Size: 615 amino acids; 66890 Da
Sequence caution: Sequence=BAC04840.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8VU82 Q8N8J8Alternative splicing: 2 isoforms: Q8NAG6-2 Q8NAG6-1 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ANKLE1: NX_Q8NAG6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NAG6
ANKLE1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_689576.4
ENSEMBL proteins: ENSP00000384753 ENSP00000384008 ENSP00000377971 ENSP00000394460
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:0005635 | nuclear envelope |
IEA | -- |
ANKLE1 for ontologies About GeneDecksing
ANKLE1 Antibody Products:
Assay Products for ANKLE1: |
Protein
Domains /
Families
for ANKLE1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ANKLE1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8NAG6ProtoNet protein and cluster: Q8NAG6 UniProtKB/Swiss-Prot: ANKL1_HUMAN, Q8NAG6Similarity: Contains 3 ANK repeatsSimilarity: Contains 1 GIY-YIG domainSimilarity: Contains 1 LEM domain |
Function
for ANKLE1 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 ANKLE1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ANKLE1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ANKLE1 (NM_152363) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ANKLE1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKLE1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKLE1 |
2 GenomeRNAi human phenotypes for ANKLE1:
|
Pathways & Interactions
for ANKLE1 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 ANKLE1
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
3 Interacting proteins for ANKLE1 (Q8NAG63 ENSP000003847534) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for ANKLE1 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 ANKLE1
Search CenterWatch for drugs/clinical trials and news about ANKLE1 / ANKL1
|
Transcripts
for ANKLE1 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 ANKLE1 gene: NM_152363.4 Unigene Cluster for ANKLE1: Ankyrin repeat and LEM domain containing 1 Hs.721610 [show with all ESTs]Unigene Representative Sequence: NM_1523634 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000404261 ENST00000404085(uc010xpm.1 uc002nga.2 uc010eao.1 uc010xpn.1)
ENST00000394458(uc002nfy.2 uc002nfz.2) ENST00000433424
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ANKLE1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ANKLE1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ANKLE1 (NM_152363) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ANKLE1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKLE1 |
Additional cDNA sequence: AK092706.1 AK096688.1 AK299977.1 AK303628.1 BC125274.1 EU184013.1 6 DOTS entries: DT.100743055 DT.75129972 DT.91925680 DT.121502712 DT.121502667 DT.95076119 24/26 AceView cDNA sequences (see all 26): AK096688 BQ063138 BQ423817 AW467458 AX747681 BQ058259 NM_152363 AK092706 BQ433179 AW249299 BQ642145 BQ057461 BX644665 AW875188 BQ055213 AW248879 AW572870 BQ224491 BQ061246 BQ059246 BF982291 BM927676 BU656024 BG258016
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for ANKLE1 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ANKLE1
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Expression
for ANKLE1 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
| ANKLE1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See ANKLE1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ANKLE1
SOURCE GeneReport for Unigene cluster: Hs.721610
SABiosciences Custom PCR Arrays for ANKLE1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ANKLE1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ANKLE1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANKLE1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANKLE1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKLE1 |
Orthologs
for ANKLE1 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 ANKLE1 gene from 6/18 species (see all 18) About this table
ENSEMBL Gene Tree for ANKLE1 (if available)
TreeFam Gene Tree for ANKLE1 (if available) |
Paralogs
for ANKLE1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ANKLE1 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 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ANKLE1 (17392454 - 17398455 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for ANKLE1
3 CNVs: 50091 30071 30072
1 Indel: 50092
Human Gene Mutation Database (HGMD): ANKLE1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANKLE1 |
|
Disorders
/ Diseases
for ANKLE1 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
|
ANKLE1 for disorders About GeneDecksing
6  diseases for ANKLE1: About MalaCardsvenous insufficiency legionnaires' disease hepatitis b ovarian cancer
breast cancer hepatitis
Human Genome Epidemiology (HuGE) Navigator: ANKLE1 (3 documents)
Export disorders for ANKLE1 gene to outside databases
|
Publications
for ANKLE1 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 ANKLE1 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with ANKLE1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
- A locus on 19p13 modifies risk of breast cancer in BR CA1 mutation carriers and is associated with hormone receptor-negative breast c ancer in the general population. (PubMed id 20852631)1 Antoniou A.C....Couch F.J. (2010)
- Common variants at 19p13 are associated with suscepti bility to ovarian cancer. (PubMed id 20852633)1 Bolton K.L....Gayther S.A. (2010)
- Broad spectrum identification of SUMO substrates in m elanoma cells. (PubMed id 17549794)1 Ganesan A.K....White M.A. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- All in the family: evidence for four new LEM-domain proteins Lem2 (NET-25), Lem3, Lem4 and Lem5 in the human genome. (PubMed id 15565891)1 Lee K.K. and Wilson K.L. (2004)
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
|
External Searches for ANKLE1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing ANKLE1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ANKLE1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ANKLE1 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 ANKLE1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ANKLE1 gene:
Search GeneIP for patents involving ANKLE1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ANKLE1 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
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ANKLE1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANKLE1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ANKLE1 | | | OriGene Protein Over-expression Lysate for ANKLE1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ANKLE1 | | OriGene 3'-UTR Clone for ANKLE1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ANKLE1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ANKLE1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ANKLE1 | | OriGene Custom Protein Services for ANKLE1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ANKLE1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANKLE1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKLE1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANKLE1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANKLE1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANKLE1 |
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 | | | ANKLE1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKLE1 |
|  |  |  | | | | Search ThermoFisher Antibodies for ANKLE1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKLE1 |
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