ABHD1 Gene
protein-coding GIFtS : 47
GCID: GC02 P027349
abhydrolase domain containing 1
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Aliasesfor ABHD1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Abhydrolase Domain Containing 1 1 2 Abhydrolase Domain-Containing Protein 12 LABH11 2 3 5 EC 3.1.1.-3 Lung Alpha/Beta Hydrolase 12 3 EC 3.1.18 FLJ361281
Export aliases for ABHD1 gene to outside databases Previous GC identifers: GC02P027268 GC02P027439 GC02P027321 GC02P027258 GC02P027088
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Summariesfor ABHD1 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 ABHD1 : This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. (provided by RefSeq, Jul 2008)
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Genomic Viewsfor ABHD1 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_000002.11 NC_018913.1 NT_022184.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ABHD1 gene promoter: NF-1/L NF-1 Elk-1 NRSF form 1 p300 Nkx2-2 CUTL1 NRSF form 2 HNF-4alpha1 STAT3 Other transcription factors Search SABiosciences Chromatin IP Primers for ABHD1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ABHD1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 2p23.3 Ensembl cytogenetic band: 2p23.3 HGNC cytogenetic band: 2p23.3 ABHD1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02P027349: view genomic region
(about GC identifiers )
Start:
27,346,657 bp from pter
End:
27,353,680 bp from pter
Size:
7,024 bases
Orientation:
plus strand
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Proteinsfor ABHD1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: ABHD1_HUMAN, Q96SE0 (See
protein sequence )Recommended Name: Abhydrolase domain-containing protein 1 Size : 405 amino acids; 45207 Da
Subcellular location : Membrane; Single-pass type II membrane protein (Potential)
Secondary accessions : Q05BY3 Q53SZ1 Q8IXQ7Explore the universe of human proteins at neXtProt for ABHD1: NX_Q96SE0 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q96SE0 4/6 DME Specific Peptides for ABHD1 (Q96SE0 ) (see all 6 )ABHD1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_115993.3 ENSEMBL proteins: ENSP00000410756 ENSP00000326491 ENSP00000390390 ENSP00000397522 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
ABHD1 for ontologies About GeneDecksing ABHD1 Antibody Products: Assay Products for ABHD1:
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Protein
Domains / Familiesfor ABHD1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ABHD1 for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q96SE0 ProtoNet protein and cluster: Q96SE0
1 Blocks protein family : IPB000952 Protein of unknown function UPF0017 UniProtKB/Swiss-Prot: ABHD1_HUMAN, Q96SE0 Similarity : Belongs to the AB hydrolase superfamily. AB hydrolase 4 family
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Functionfor ABHD1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 Enzyme Numbers (IUBMB): EC 3.1.1 2 EC 3.1.1.- 1 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 ABHD1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABHD1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): ABHD1 (NM_021160 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABHD1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABHD1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD1
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:0003674 molecular_function
ND -- GO:0004091 carboxylesterase activity
IEA --
ABHD1 for ontologies About GeneDecksing
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Pathways & Interactionsfor ABHD1 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 ABHD1 5/18 Interacting proteins for ABHD1 (Q96SE0 3 ) via UniProtKB, MINT, STRING, and/or I2D (see all 18 )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:0008150 biological_process
ND --
ABHD1 for ontologies About GeneDecksing
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Drugs & Compoundsfor ABHD1 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 ABHD1 Search CenterWatch for drugs/clinical trials and news about ABHD1
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Transcriptsfor ABHD1 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 ABHD1 gene (2 alternative transcripts): NM_032604.3 NM_152870.1 Unigene Cluster for ABHD1:
Abhydrolase domain containing 1 Hs.375791 [show with all ESTs ] Unigene Representative Sequence: BC039576 6 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000489120 ENST00000448950 (uc002riu.3 uc002riv.3 ) ENST00000316470 (uc002rit.3 )ENST00000420647 ENST00000416071 ENST00000496739 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABHD1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABHD1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): ABHD1 (NM_021160 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABHD1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABHD1
Additional cDNA sequence: AY033290.1 BC039576.1 BC056403.1
6 DOTS entries : DT.101985109 DT.40204293
DT.95155684 DT.91798562 DT.443424 DT.100877117 24/44 AceView cDNA sequences (see all 44 ):
BC031868 AY033290 NM_032604 AI678612 AI554273 BU739913 AA382999 BC039576 AW444693 AA432315 BU740385 T34011 AA428655 BM720460 NM_152870 AL042777 AA935635 AA609036 BX367193 AX748133 AK093447 BI827051 AA707513 BC028378 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for ABHD1 About this scheme ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 SP1 :         -                   SP2 :     -     -   -         -         SP3 :     -     -                   SP4 :                           SP5 :                          
ECgene alternative splicing isoforms for ABHD1
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Expression for ABHD1 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 ABHD1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AGCCGCCTCT
About this image ABHD1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Brain Meninges Brain Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See ABHD1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ABHD1 SOURCE GeneReport for Unigene cluster: Hs.375791 UniProtKB/Swiss-Prot: ABHD1_HUMAN, Q96SE0 Tissue specificity : Ubiquitously expressed SABiosciences Custom PCR Arrays for ABHD1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABHD1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse / rat ABHD1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABHD1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABHD1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD1
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Orthologsfor ABHD1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ABHD1 gene from 7/23 species (see all 23 ) About this table
ENSEMBL Gene Tree for ABHD1 (if available)TreeFam Gene Tree for ABHD1 (if available)
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Paralogsfor ABHD1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ABHD1 gene ABHD3 2 ABHD15 2 ABHD2 2 1 SIMAP similar gene for ABHD1 using alignment to 5 protein entries: ABHD1_HUMAN (see all proteins ):ABHD3
ABHD1 for paralogs About GeneDecksing
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Genomic Variantsfor ABHD1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 2 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ABHD1 (27346657 - 27353680 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for ABHD1 1 CNV : 9399
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABHD1
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Disorders
/ Diseasesfor ABHD1 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
ABHD1 for disorders About MalaCards
ABHD1 for disorders About GeneDecksing
OMIM gene information: 612195
OMIM disorders : --Export disorders for ABHD1 gene to outside databases
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Publicationsfor ABHD1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ABHD1 gene integrated from 9 sources : (articles sorted by number of sources associating them with ABHD1) Utopia : connect your pdf to the dynamic world of online information
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621) 1 , 2 Hillier L.W....Wilson R.K. (2005) 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) The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12. (PubMed id 12735795) 1 , 2 Edgar A.J. (2003) Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs. (PubMed id 11922611) 1 , 3 Edgar A.J. and Polak J.M. (2002) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 Ota T.... Sugano S. (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002)
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External Searches for ABHD1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ABHD1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing ABHD1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing ABHD1 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 ABHD1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for ABHD1 gene: Search GeneIP for patents involving ABHD1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ABHD1 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 ABHD1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ABHD1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABHD1 OriGene Protein Over-expression Lysate for ABHD1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ABHD1 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABHD1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABHD1 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 ABHD1 OriGene Custom Protein Services for ABHD1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABHD1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABHD1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ABHD1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ABHD1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABHD1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABHD1
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ABHD1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD1
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABHD1
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