Product Details

Uniprot No.

O75364

Target Names

PITX3

Alternative Names

Pituitary homeobox 3 (Homeobox protein PITX3) (Paired-like homeodomain transcription factor 3), PITX3, PTX3

Species Reactivity

Human

Immunogen

A synthesized peptide derived from Human PITX3

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

Clonality

Monoclonal

Isotype

Rabbit IgG

Clone No.

28A9

Purification Method

Affinity-chromatography

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Rabbit IgG in 10mM phosphate buffered saline , pH 7.4, 150mM sodium chloride, 0.05% BSA, 0.02% sodium azide and 50% glycerol.

Form

Liquid

Tested Applications

ELISA, IF, FC

Recommended Dilution

Application	Recommended Dilution
IF	1:50-1:200
FC	1:50-1:200

Protocols

ELISA Protocol
Immunofluorescence (IF) Protocol
Flow Cytometry (FC) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Description

PITX3 is a paired-like homeodomain transcription factor that plays an essential role in the development and survival of midbrain dopaminergic neurons. This transcription factor has garnered significant attention in neuroscience research due to its involvement in dopaminergic neuron differentiation and its potential implications for understanding neurodegenerative conditions affecting these neuronal populations. Beyond its neurological significance, PITX3 also participates in lens development and broader developmental processes, making it a valuable target for researchers investigating transcriptional regulation in multiple biological contexts.

This recombinant monoclonal antibody, clone 28A9, offers the consistency and reliability that demanding experimental workflows require. Because it is produced from a defined sequence rather than traditional hybridoma methods, researchers can expect exceptional lot-to-lot reproducibility, ensuring that optimization efforts translate reliably across experiments and over time. The rabbit IgG format provides strong signal characteristics while maintaining specificity against the human PITX3 target.

Validation studies demonstrate this antibody's utility across multiple detection platforms. Immunofluorescence staining of A549 cells reveals clear nuclear localization patterns consistent with PITX3's function as a transcription factor, with effective detection at dilutions ranging from 1:50 to 1:200. Flow cytometry analysis using SH-SY5Y cells, a neuroblastoma line frequently employed in neuroscience research, shows distinct positive population shifts compared to isotype controls, confirming specific detection in a physiologically relevant cell model.

For researchers investigating epigenetic regulation, nuclear signaling pathways, or dopaminergic neuron biology, this antibody provides a dependable tool for immunofluorescence and flow cytometry applications. The validated performance in both adherent epithelial and neuronal cell lines offers flexibility for diverse experimental designs in developmental and neuroscience research programs.

Usage

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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Target Background

Function

Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle.

Gene References into Functions

Results show that a common polymorphism in the PITX3 gene affects the risk of developing Parkinson's disease (PD) dementia and visuospatial dysfunction in idiopathic PD. If validated, these findings can provide new insights into the neurobiology and genetics of non-motor symptoms in PD. PMID: 28991698
Study showed that PITX3 methylation was significantly methylated in head and neck squamous cell carcinoma (HNSCC) tumor compared to normal adjacent tissue and correlated with lymph node status. These results provide evidence that PITX3 DNA methylation is an independent prognostic biomarker for overall survival in patients with HNSCC and might aid in the process of risk stratification for individualized treatment. PMID: 28174607
These findings suggest that p.A203fs in PITX3 is the cause of cataracts in the recruited family. PMID: 28249924
PITX3 variants rs3758549 and rs4919621 are not associated with ET in Chinese Han population. PMID: 27145793
novel PITX3 mutation c.573del, p.(Ser192Alafs*117), was identified in heterozygous state in a Belgo-Romanian family with a similar phenotype PMID: 24555714
Meta-analysis suggests that rs3758549, rs2281983, and rs4919621 single nucleotide polymorphisms are not major determinants of the risk for Parkinson's disease PMID: 24525476
the SNP rs3758549 might contribute to the occurrence of Parkinson disease (PD) in the Asian population, especially early onset PD in the Asian population. PMID: 24394914
Meta-analysis and HuGE review of genotype prevalence and gene-disease association. (HuGE Navigator) PMID: 11994226
Mutations in PITX3 are not a common cause or a risk factor for multisystem atrophy and progressive supranuclear palsy in the Polish population. PMID: 23694789
Presence of the rs4919621 allele A in PITX3 significantly increases the risk of Parkinson's disease (PD) patients in a Caucasian population, while rs2281983 allele C and rs4919621 allele A were both risk factors in early onset PD. PMID: 22429667
novel synonymous SNP in PITX3 gene may contribute to PD risk in the Chinese population. PMID: 22411443
Deletion of PITX3 is associated with aggressive neurobehavioral phenotype in Smith-Magenis Syndrome. PMID: 22223473
Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively. PMID: 21836522
The results of this study suggested that these PITX3 SNPs do not contribute to the risk of developing PD in EOPD or LOPD in Chinese. PMID: 22037506
The single nucleotide polymorphism rs3758549 (C >T substitution) in the Pitx3 gene is a potential risk for sporadic Parkinson disease (PD), especially early-onset PD in Chinese Han population. PMID: 21138504
This study found that rs2281983 and rs4919621 appeared to confer susceptibility to Parkinson's disease, especially in early-onset Parkinson's disease and familial Parkinson's disease. PMID: 21469209
Allele & genotype frequencies did not differ between patients & controls for rs2281983, rs4919621, & rs3758549. These SNP sites do not contribute to the risk of developing PD in late-onset sporadic PD in this Chinese population. PMID: 21565251
The 542delC is a novel mutation in PITX3 causing an isolated posterior polar cataract. PMID: 21633712
This study suggested that the PITX3 gene rs3758549 polymorphism may increase the susceptibility of Parkinson's disease in chinese. PMID: 21524731
PITX3 may play a role in the pathogenesis of Parkinson disease. PMID: 19394114
The result of this study found a strong association between the PITX3 promoter rs3758549 polymorphism and Parkinson's disease. PMID: 19345444
Genetic variation in PITX3 may increase the risk of developing schizophrenia. PMID: 20570600
The A-allele of a HapMap tagging SNP (rs4919621) that was genotyped in a population of Parkinson's disease (PD) patients, was significantly more common in PD patients with an early age of onset. PMID: 18420308
The absence of PITX3 mutations in a family presenting congenital cataract and mental retardation, is reported. PMID: 20376326
A family with posterior polar cataract with a novel deletion mutation in PITX3. PMID: 15286169
we mapped dominant congenital posterior polar cataracts to chromosome 10q24. On sequencing the coding region of PITX3, we found a 17-base-pair duplication in exon 4. PMID: 16272057
This is the first report of homozygous PITX3 mutations in humans. The phenotype in these individuals highlights the role of PITX3 in ocular and central nervous system (CNS) development. PMID: 16565358
The 657ins17bp duplication of the PITX3 gene is the cause of the cataract phenotype in the large pedigree. PMID: 16636655
we discuss the role of Pitx3 in molecular mechanisms involved in the regional specification, neuronal specification and differentiation of mDA neurons--REVIEW PMID: 17017509
The G219fs mutation was found in multiple families affected with congenital cataracts along with anterior segment malformations. The S13N mutant showed only minor alteration and may represent a rare polymorphism in the PITX3 gene. PMID: 17888164
We provide evidence for a novel, strong and reproducible association of the PITX3 promoter SNP rs3758549: C>T (p=0.004) with Parkinson Disease. PMID: 17905480
Duplication of a segment of PITX3 can result in severe symptoms leading to functional blindness while in other individuals in the same family or in other families, the same duplication leads to treatable cataract with minimal visual impairment. PMID: 18989383

Hide All

Involvement in disease

Anterior segment dysgenesis 1 (ASGD1); Cataract 11, multiple types (CTRCT11)

Subcellular Location

Nucleus.

Protein Families

Paired homeobox family, Bicoid subfamily

Tissue Specificity

Highly expressed in developing eye lens.

Database Links

HGNC: 9006

OMIM: 107250

KEGG: hsa:5309

STRING: 9606.ENSP00000359019

UniGene: Hs.137568

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Code	CSB-RA069971A0HU
Size	US$210
	Order now
Image	Immunofluorescence staining of A549 with CSB-RA069971A0HU at 1:20, counter-stained with DAPI. The cells were fixed in 4% formaldehyde and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 520-congugated AffiniPure Goat Anti-Rabbit IgG(H+L). Overlay Peak curve showing SH-SY5Y cells stained with CSB-RA069971A0HU (red line) at 1:50. The cells were fixed in 4% formaldehyde and permeated by 0.2% TritonX-100. Then 10% normal goat serum to block non-specific protein-protein interactions followed by the antibody (1µg/110⁶cells) for 45min at 4℃. The secondary antibody used was FITC-conjugated Goat Anti-rabbit IgG(H+L) at 1:200 dilution for 35min at 4℃.Control antibody (green line) was rabbit IgG (1µg/110⁶cells) used under the same conditions. Acquisition of >10,000 events was performed.
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PITX3 Recombinant Monoclonal Antibody

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