HMX1 Gene
protein-coding GIFtS : 47
GCID: GC04 M008847
H6 family homeobox 1 (Previous name: homeo box (H6 family) 1 )
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Aliasesfor HMX1 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 H6 Family Homeobox 1 1 2 Homeo Box (H6 Family) 11 H61 2 3 5 H6 Homeodomain Protein2 NKX5-31 2 Homeobox Protein HMX12 Homeobox Protein H62 3
Export aliases for HMX1 gene to outside databases Previous GC identifers: GC04M021233 GC04M9E0039 GC00M9M0039 GC00M9V0039 GC04M9P0039 GC04M9R0039 GC04M008869
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Summariesfor HMX1 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 HMX1 : This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. (provided by RefSeq, Oct 2009) UniProtKB/Swiss-Prot: HMX1_HUMAN, Q9NP08 Function : DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor.Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear
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Genomic Viewsfor HMX1 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_000004.11 NC_018915.1 NT_006316.16 Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for HMX1 Other transcription factors Search SABiosciences Chromatin IP Primers for HMX1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat HMX1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 4p16.1 Ensembl cytogenetic band: 4p16.1 HGNC cytogenetic band: 4p16.1 HMX1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 4 GeneLoc Exon Structure
GeneLoc location for GC04M008847: view genomic region
(about GC identifiers )
Start:
8,847,931 bp from pter
End:
8,873,543 bp from pter
Size:
25,613 bases
Orientation:
minus strand
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Proteinsfor HMX1 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: HMX1_HUMAN, Q9NP08 (See
protein sequence )Recommended Name: Homeobox protein HMX1 Size : 348 amino acids; 36155 Da
Subcellular location : Nucleus (Probable)
Sequence caution : Sequence=AAF70205.1; Type=Frameshift; Positions=35, 60, 84, 89, 157, 179, 277;Explore the universe of human proteins at neXtProt for HMX1: NX_Q9NP08 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9NP08 HMX1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_061815.2 ENSEMBL proteins: ENSP00000446997 ENSP00000383516 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
HMX1 for ontologies About GeneDecksing HMX1 Antibody Products: Assay Products for HMX1:
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Protein
Domains / Familiesfor HMX1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HMX1 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9NP08 ProtoNet protein and cluster: Q9NP08
1 Blocks protein family : IPB000047 Lambda and other repressor helix-turn-helix signature UniProtKB/Swiss-Prot: HMX1_HUMAN, Q9NP08 Similarity : Belongs to the HMX homeobox familySimilarity : Contains 1 homeobox DNA-binding domain
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Functionfor HMX1 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 Function Summary: UniProtKB/Swiss-Prot: HMX1_HUMAN, Q9NP08 Function : DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor.Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear
Genatlas biochemistry entry for HMX1 : Drosophila NK-3/NK-1 homolog,homeo domain encoding gene 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 HMX1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HMX1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HMX1 (NM_018942 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HMX1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HMX1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMX1
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:0003677 DNA binding
IMP 10206974 GO:0003700 sequence-specific DNA binding transcription factor activity
IEA -- GO:0043565 sequence-specific DNA binding
IEA --
HMX1 for ontologies About GeneDecksing Animal Models: 8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Hmx1) :
HMX1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor HMX1 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 HMX1 Gene Ontology (GO): 3 biological process terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006351 transcription, DNA-dependent
IEA -- GO:0007275 multicellular organismal development
IEA -- GO:0045892 negative regulation of transcription, DNA-dependent
IMP 10206974
HMX1 for ontologies About GeneDecksing
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Drugs & Compoundsfor HMX1 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 HMX1 Search CenterWatch for drugs/clinical trials and news about HMX1
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Transcriptsfor HMX1 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 HMX1 gene: NM_018942.2 Unigene Cluster for HMX1:
H6 family homeobox 1 Hs.104134 [show with all ESTs ] Unigene Representative Sequence: NM_018942 2 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000506970 ENST00000400677 (uc003izz.1 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HMX1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HMX1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HMX1 (NM_018942 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HMX1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HMX1
Additional cDNA sequence: AB593128.1 M99587.1
5 DOTS entries : DT.92325134 DT.40120531
DT.97793349 DT.92325135 DT.97792808 9 AceView cDNA sequences :
BM672288 AI201696 AI864453 BM700943 BM701514 BM700983 M99587 NM_018942 BF972930 GeneLoc Exon Structure
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Expression for HMX1 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 HMX1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCCACCCGGG
About this image HMX1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See HMX1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HMX1 SOURCE GeneReport for Unigene cluster: Hs.104134 SABiosciences Custom PCR Arrays for HMX1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HMX1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat HMX1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HMX1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HMX1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMX1
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Orthologsfor HMX1 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 animals.
Orthologs for HMX1 gene from 4/13 species (see all 13 ) About this table
ENSEMBL Gene Tree for HMX1 (if available)TreeFam Gene Tree for HMX1 (if available)
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Paralogsfor HMX1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for HMX1 gene NKX2-3 2 TLX1 2 HMX2 2 NKX3-2 2 NKX2-8 2 NKX2-6 2 NKX2-1 2 NKX2-5 2 NKX2-2 2 LBX1 2 NKX2-4 2 HMX3 2 TLX3 2 LBX2 2 TLX2 2 NKX3-1 2 7 SIMAP similar genes for HMX1 using alignment to 3 protein entries: HMX1_HUMAN (see all proteins ):NKX6-1 HMX2 HOXB1 HOXA4 MEOX1 HMX3 RAX2
HMX1 for paralogs About GeneDecksing
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Genomic Variantsfor HMX1 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 Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 6 variations for HMX1 6 CNVs : 80182 2497 91924 91923 80181 3479 Human Gene Mutation Database (HGMD) : HMX1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HMX1
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Disorders
/ Diseasesfor HMX1 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
HMX1 for disorders About GeneDecksing OMIM gene information: 142992 OMIM disorders : 612109 UniProtKB/Swiss-Prot: HMX1_HUMAN, Q9NP08
Defects in HMX1 are the cause of oculoauricular syndrome (OCLAUS) [MIM:612109]; also known as microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear 9 diseases for HMX1 : About MalaCards oculoauricular syndrome maturity-onset diabetes of the young cone dystrophy coloboma microphthalmia insulinoma hyperglycemia retinitis neuronitis 3 diseases from the University of Copenhagen DISEASES database for HMX1 :Diabetes mellitus Hyperglycemia maturity-onset diabetes of the young Export disorders for HMX1 gene to outside databases
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Publicationsfor HMX1 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 HMX1 gene integrated from 9 sources : (articles sorted by number of sources associating them with HMX1) Utopia : connect your pdf to the dynamic world of online information
Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4. (PubMed id 1360670) 1 , 2 , 3 Stadler H.S.... Solursh M. (1992) Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. (PubMed id 18423520) 1 , 2 Schorderet D.F....Munier F.L. (2008) Transcriptional antagonism between Hmx1 and Nkx2.5 for a shared DNA- binding site. (PubMed id 10206974) 1 , 2 Amendt B.A.... Russo A.F. (1999) Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation. (PubMed id 21417677) 1 Vaclavik V....Munier F.L. (2011) Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621) 2 Hillier L.W....Wilson R.K. (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) Phylogenetic conservation and physical mapping of members of the H6 homeobox gene family. (PubMed id 7647458) 1 Stadler H.S.... Solursh M. (1995) Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial ab normalities and reduced body mass. (PubMed id 19379485) 9 Munroe R.J....Schimenti J.C. (2009) Cloning, characterization, and mapping of the mouse homeobox gene Hmx1. (PubMed id 9628823) 9 Yoshiura K....Murray J.C. (1998)
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External Searches for HMX1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HMX1 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 HMX1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing HMX1 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 HMX1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for HMX1 gene: Search GeneIP for patents involving HMX1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HMX1 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 HMX1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for HMX1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HMX1 OriGene Protein Over-expression Lysate for HMX1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for HMX1 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HMX1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HMX1 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 HMX1 OriGene Custom Protein Services for HMX1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HMX1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HMX1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat HMX1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat HMX1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HMX1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HMX1
Search Tocris compounds for HMX1
HMX1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMX1
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HMX1
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Aliases for HMX1
Databases for HMX1
Disorders / Diseases for HMX1
Domains / Families for HMX1
Drugs / Compounds for HMX1
Expression for HMX1
Function for HMX1
Genomic Views for HMX1
Intellectual Property for HMX1
Orthologs for HMX1
Paralogs for HMX1
Pathways / Interactions for HMX1
Products for HMX1
Proteins for HMX1
Publications for HMX1
Search Box for HMX1
Summaries for HMX1
Transcripts for HMX1
Variants for HMX1
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