PIGM Gene
protein-coding GIFtS: 51
GCID: GC01M159997
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phosphatidylinositol glycan anchor biosynthesis, class M(Previous names: phosphatidylinositol glycan, class M )
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Aliases for PIGM gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Phosphatidylinositol Glycan Anchor Biosynthesis, Class M1 2 | | GPI Mannosyltransferase 12 | | GPI-MT-I1 2 3 | | PIG-M Mannosyltransferase2 | | Phosphatidylinositol-Glycan Biosynthesis Class M Protein2 3 | | EC 2.4.1.-3 | | GPI Mannosyltransferase I2 3 | | PIG-M3 | | Phosphatidylinositol Glycan, Class M1 | | EC 2.4.18 |
Export aliases for PIGM gene to outside databasesPrevious GC identifers: GC01M157791 GC01M155731 GC01M156777 GC01M157216 GC01M156812 GC01M158261 GC01M131354 |
Summaries for PIGM 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 PIGM: This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchorbiosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules inits core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. Thisgene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of theendoplasmic reticulum. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: PIGM_HUMAN, Q9H3S5Function: Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the firstalpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly
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Genomic Views for PIGM 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_000001.10 NC_018912.1 NT_004487.19
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PIGM gene promoter: HOXA9B HOXA9 NRSF form 1 Nkx2-5 NRSF form 2 c-Rel Nkx6-1 Ik-2 Cart-1 Meis-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for PIGM
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIGM |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q23.2 Ensembl cytogenetic band: 1q23.2 HGNC cytogenetic band: 1q23.2PIGM Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M159997: view genomic region
(about GC identifiers)
Start:
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159,997,462 bp from pter |
End:
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160,001,783 bp from pter |
Size:
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4,322 bases |
Orientation:
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minus strand |
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Proteins for PIGM 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: PIGM_HUMAN, Q9H3S5 (See
protein sequence)Recommended Name: GPI mannosyltransferase 1 Size: 423 amino acids; 49460 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane proteinExplore the universe of human proteins at neXtProt for PIGM: NX_Q9H3S5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H3S5 4/13 DME Specific Peptides for PIGM (Q9H3S5) (see all 13)
PIGM Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_660150.1 ENSEMBL proteins: ENSP00000357069 Reactome Protein details: Q9H3S5 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:0005789 | endoplasmic reticulum membrane |
TAS | -- | | GO:0016021 | integral to membrane |
IEA | -- |
PIGM for ontologies About GeneDecksing
PIGM Antibody Products: Assay Products for PIGM: |
Protein
Domains / Families for PIGM gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PIGM for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H3S5ProtoNet protein and cluster: Q9H3S5 UniProtKB/Swiss-Prot: PIGM_HUMAN, Q9H3S5Similarity: Belongs to the PIGM family |
Function for PIGM 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: PIGM_HUMAN, Q9H3S5Function: Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the firstalpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assemblyEnzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.-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 PIGM (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PIGM OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PIGM (NM_145167) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PIGM | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGM  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGM |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000030 | mannosyltransferase activity |
IEA | -- |
PIGM for ontologies About GeneDecksing
|
Pathways & Interactions for PIGM 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 |
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| 1 | Post-translational modification: synthesis of GPI-anchored proteins | | | 2 | Asparagine N-linked glycosylation | | | 3 | Metabolism | |
Pathway sources See GeneCards unified pathways Show all pathways
4
Reactome Pathways for PIGM
2
Kegg Pathways (Kegg details for PIGM): UniProtKB/Swiss-Prot: PIGM_HUMAN, Q9H3S5Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis
PIGM for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PIGM
STRING Interaction
Network Preview (showing 5 interactants - click image to see 11)
 5/22 Interacting proteins for PIGM (Q9H3S53 ENSP000003570694) via UniProtKB, MINT, STRING, and/or I2D (see all 22) About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0006501 | C-terminal protein lipidation |
TAS | -- | | GO:0006506 | GPI anchor biosynthetic process |
-- | -- | | GO:0016254 | preassembly of GPI anchor in ER membrane |
TAS | -- | | GO:0043687 | post-translational protein modification |
TAS | -- | | GO:0044267 | cellular protein metabolic process |
TAS | -- |
PIGM for ontologies About GeneDecksing
|
Drugs & Compounds for PIGM 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 PIGM
10/898 HMDB Compounds for PIGM (see all 898) About this table Search CenterWatch for drugs/clinical trials and news about PIGM 
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Transcripts for PIGM 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 PIGM gene: NM_145167.2 Unigene Cluster for PIGM: Phosphatidylinositol glycan anchor biosynthesis, class M Hs.552810 [show with all ESTs]Unigene Representative Sequence: NM_1451671 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000368090(uc001fuv.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PIGM (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PIGM OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PIGM (NM_145167) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PIGM | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGM  |
Additional cDNA sequence: AB028127.1 AK074655.1 BC001803.1 BC011395.1 BC019865.1 5 DOTS entries: DT.109042 DT.108723 DT.100779967 DT.97781362 DT.100667066 24/125 AceView cDNA sequences (see all 125): BI760251 AA161444 AW866630 AA662913 BX471158 CR621612 BQ018479 BM692305 BC001803 NM_145167 AA251825 BP352285 AB028127 AK074655 H88190 AI761712 CD519160 AI262873 BU076247 BQ639200 BM684777 BQ937190 H88189 BM556229 GeneLoc Exon Structure
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Expression for PIGM 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
| PIGM expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See PIGM Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PIGM
SOURCE GeneReport for Unigene cluster: Hs.552810 SABiosciences Custom PCR Arrays for PIGM
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PIGM Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PIGM | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PIGM | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PIGM | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGM |
Orthologs for PIGM 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 PIGM gene from 10/33 species (see all 33) About this table
ENSEMBL Gene Tree for PIGM (if available) TreeFam Gene Tree for PIGM (if available)  |
Paralogs for PIGM gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for PIGM 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 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for PIGM (159997462 - 160001783 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for PIGM: -- Human Gene Mutation Database (HGMD): PIGM
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PIGM |
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Disorders
/ Diseases for PIGM 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
|
PIGM for disorders About GeneDecksing
OMIM gene information: 610273 OMIM disorders: 610293 UniProtKB/Swiss-Prot: PIGM_HUMAN, Q9H3S5
Defects in PIGM are the cause of glycosylphosphatidylinositol deficiency (GPID) [MIM:610293]. GPID is anautosomal recessive trait that results in a propensity to venous thrombosis and seizures. Deficiency is due to a pointmutation in the regulatory sequences of PIGM that disrupts binding of the transcription factor SP1 to its cognatepromoter motif, leading to a strong reduction of expression 4 diseases for PIGM: About MalaCardsglycosylphosphatidylinositol deficiency babesiosis thrombosis malaria Export disorders for PIGM gene to outside databases
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Publications for PIGM 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 PIGM gene, integrated from 9 sources (see all 11): (articles sorted by number of sources associating them with PIGM) | |  | Utopia: connect your pdf to the dynamic world of online information |
- PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER. (PubMed id 11226175)1, 2, 3 Maeda Y....Kinoshita T. (2001)
- Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. (PubMed id 16767100)1, 2 Almeida A.M.... Karadimitris A. (2006)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (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)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
- Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I. (PubMed id 15635094)1 Ashida H.... Kinoshita T. (2005)
- 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)
- Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis. (PubMed id 11102867)1 Kinoshita T. and Inoue N. (2000)
- Both mammalian PIG-M and PIG-X are required for growth of GPI14-disrupted yeast. (PubMed id 17519279)9 Kim Y.U....Kinoshita T. (2007)
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External Searches for PIGM gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing PIGM gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PIGM gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PIGM 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 PIGM | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for PIGM gene: Search GeneIP for patents involving PIGM
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for PIGM 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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variant library, vector shuttling | | OriGene Custom Antibody Services for PIGM | | OriGene Custom Protein Services for PIGM | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PIGM | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PIGM | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIGM | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PIGM | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PIGM | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PIGM |
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| | | Search Tocris compounds for PIGM |
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 | | PIGM Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGM |
|  |  |  | | | ThermoFisher Antibodies for PIGM |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGM |
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