SMPX Gene
protein-coding GIFtS : 44
GCID: GC0X M021634
small muscle protein, X-linked
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Aliasesfor SMPX 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 Small Muscle Protein, X-Linked 1 2 Stretch-Responsive Skeletal Muscle Protein2 3 DFNX42 Small Muscular Protein2 SRMX3
Export aliases for SMPX gene to outside databases Previous GC identifers: GC0XM020298 GC0XM020922 GC0XM021085 GC0XM021483 GC0XM019465
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Summariesfor SMPX 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 SMPX : This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. (provided by RefSeq, Dec 2011) UniProtKB/Swiss-Prot: SMPX_HUMAN, Q9UHP9 Function : Plays a role in the regulatory network through which muscle cells coordinate their structural and functionalstates during growth, adaptation, and repair (By similarity)
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Genomic Viewsfor SMPX 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_167197.1 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SMPX gene promoter: STAT5B C/EBPbeta POU3F1 FOXL1 PPAR-gamma1 POU2F1 POU2F1a PPAR-gamma2 FOXO1 RSRFC4 Other transcription factors Search SABiosciences Chromatin IP Primers for SMPX Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMPX
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: Xp22.1 Ensembl cytogenetic band: Xp22.12 HGNC cytogenetic band: Xp22.2-p22.1 SMPX 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 GC0XM021634: view genomic region
(about GC identifiers )
Start:
21,724,090 bp from pter
End:
21,776,281 bp from pter
Size:
52,192 bases
Orientation:
minus strand
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Proteinsfor SMPX 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: SMPX_HUMAN, Q9UHP9 (See
protein sequence )Recommended Name: Small muscular protein Size : 88 amino acids; 9559 Da
Caution : It is uncertain whether Met-1 or Met-3 is the initiator
Secondary accessions : B1AWX2Explore the universe of human proteins at neXtProt for SMPX: NX_Q9UHP9 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9UHP9 SMPX Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_055147.1 ENSEMBL proteins: ENSP00000368808 Human Recombinant Protein Products for SMPX: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
SMPX for ontologies About GeneDecksing SMPX Antibody Products: Assay Products for SMPX:
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Protein
Domains / Familiesfor SMPX gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section ProtoNet protein and cluster: Q9UHP9
UniProtKB/Swiss-Prot: SMPX_HUMAN, Q9UHP9 Similarity : Belongs to the SMPX family
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Functionfor SMPX gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: SMPX_HUMAN, Q9UHP9 Function : Plays a role in the regulatory network through which muscle cells coordinate their structural and functionalstates during growth, adaptation, and repair (By similarity)
Genatlas biochemistry entry for SMPX : striated muscle protein X,expressed in muscle and heart Phenotypes: 1 GenomeRNAi human phenotype for SMPX : 2 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Smpx) :
SMPX for phenotypes About GeneDecksing Animal Models: Mouse knock-out Smpx tm1Rph for SMPXClone 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 SMPX (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SMPXOriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SMPX (NM_014332 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMPX Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SMPX
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Pathways & Interactionsfor SMPX 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 SMPX Gene Ontology (GO): 1 biological process term (GO ID links to tree view) : About this table
SMPX for ontologies About GeneDecksing
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Drugs & Compoundsfor SMPX 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
SMPX for compounds About GeneDecksing Browse Tocris compounds for SMPX 1 Novoseek chemical compound relationship for SMPX gene About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
hydrogen
0
1
15005633 (1)
Search CenterWatch for drugs/clinical trials and news about SMPX
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Transcriptsfor SMPX 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 ,
Sirion Biotech ,
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 SMPX gene: NM_014332.2 Unigene Cluster for SMPX:
Small muscle protein, X-linked Hs.86492 [show with all ESTs ] Unigene Representative Sequence: NR_045617 2 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000379494 (uc022btv.1 uc004daa.3 ) ENST00000494525 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SMPX (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SMPXOriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SMPX (NM_014332 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMPX Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SMPX
Additional cDNA sequence: AF129505.1 AJ250584.1 AK312134.1 BC005948.1 NR_045617.1
3 DOTS entries : DT.413492 DT.91831685
DT.121282744 24/46 AceView cDNA sequences (see all 46 ):
AJ250584 BM697544 AF129505 AI355906 AI090520 AI381720 NM_014332 AI190689 AI333485 BU735731 AI355905 AW170011 BM717052 BC005948 AI355904 BF791178 BE856875 BX116016 F16837 BX502872 AA211521 AI824667 W07478 F36800 GeneLoc Exon Structure
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Expression for SMPX 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 SMPX expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AATATGTCGAAbout this image SMPX expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
See SMPX Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SMPX SOURCE GeneReport for Unigene cluster: Hs.86492 UniProtKB/Swiss-Prot: SMPX_HUMAN, Q9UHP9 Tissue specificity : Preferentially and abundantly expressed in heart and skeletal muscle SABiosciences Custom PCR Arrays for SMPX Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SMPXBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SMPX QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SMPX QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SMPX
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Orthologsfor SMPX 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 common ancestor of chordates.
Orthologs for SMPX gene from 5/12 species (see all 12 ) About this table
ENSEMBL Gene Tree for SMPX (if available)TreeFam Gene Tree for SMPX (if available)
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Paralogsfor SMPX gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section --
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Genomic Variantsfor SMPX 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 X pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for SMPX (21724090 - 21776281 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SMPX: -- Human Gene Mutation Database (HGMD) : SMPX SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SMPX
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Disorders
/ Diseasesfor SMPX gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
SMPX for disorders About GeneDecksing
OMIM gene information: 300226
OMIM disorders : --UniProtKB/Swiss-Prot: SMPX_HUMAN, Q9UHP9
Defects in SMPX are the cause of deafness X-linked type 4 (DFNX4) [MIM:300066]. A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies 7 diseases for SMPX : About MalaCards friedreich ataxia hearing loss ataxia choroiditis immunodeficiency neuronitis hiv type 1 1 Novoseek disease relationship for SMPX gene About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
immunodeficiency
0
3
10559313 (1), 11860675 (1), 11000245 (1)
Export disorders for SMPX gene to outside databases
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Publicationsfor SMPX 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 SMPX gene, integrated from 9 sources (see all 58 ): (articles sorted by number of sources associating them with SMPX) Utopia : connect your pdf to the dynamic world of online information
Identification, mapping, and genomic structure of a novel X- chromosomal human gene (SMPX) encoding a small muscular protein. (PubMed id 10598820) 1 , 2 , 9 Patzak D.... Wehnert M. (1999) Identification of a novel stretch-responsive skeletal muscle gene (Smpx). (PubMed id 11401441) 1 , 2 , 9 Kemp T.J.... Coulton G.R. (2001) Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. (PubMed id 21549336) 1 , 2 Huebner A.K.... Kurth I. (2011) Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. (PubMed id 21549342) 1 , 2 Schraders M.... Kremer H. (2011) 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) A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. (PubMed id 22911656) 2 Abdelfatah N.... Young T.L. (2013) Variable degrees of hearing impairment in a Dutch DFN X4 (DFN6) family. (PubMed id 21893181) 1 Weegerink N.J....Kunst H.P. (2011) The DNA sequence of the human X chromosome. (PubMed id 15772651) 2 Ross M.T.... Bentley D.R. (2005) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 2 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 SMPX gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SMPX 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 SMPX gene
(According to HUGE )
About This Section --
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Specialized Databases showing SMPX 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 SMPX Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for SMPX gene: Search GeneIP for patents involving SMPX GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SMPX 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 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , 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 , Animal models from inGenious Targeting Laboratory )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for SMPX OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for SMPX OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SMPX OriGene Protein Over-expression Lysate for SMPX Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SMPX OriGene 3'-UTR Clone for SMPX OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SMPX OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SMPX 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 OriGene Purified Protein for SMPX OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SMPX OriGene Custom Protein Services for SMPX OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SMPX QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SMPX QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMPX QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SMPX QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SMPX QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SMPX
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SMPX Proteins, Antibodies, CLIAs, and ELISAs
ThermoFisher Antibodies for SMPX
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SMPX
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Aliases for SMPX
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Disorders / Diseases for SMPX
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Expression for SMPX
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