KDM6A Antibody
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Description
Introduction to KDM6A Antibody
KDM6A (lysine demethylase 6A), also known as UTX, is a histone H3K27me2/3 demethylase that regulates gene expression by modifying chromatin structure. KDM6A antibodies are specialized tools used to detect, quantify, and study the spatial distribution of this enzyme in research and diagnostic contexts. These antibodies are critical for investigating KDM6A's roles in development, cancer biology, and immune regulation .
Applications of KDM6A Antibodies
KDM6A antibodies are widely utilized in:
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Western Blotting: Detection of KDM6A at ~154 kDa in cell lysates (e.g., validated in HeLa, HAP1, and myeloma cell lines) .
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Immunohistochemistry (IHC): Tissue-specific staining patterns in normal and tumor samples (e.g., nuclear staining in urothelium, pancreatic acinar cells, and immune cells) .
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Immunofluorescence (IF): Subcellular localization in fixed cells, often showing nuclear enrichment .
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Chromatin Immunoprecipitation (ChIP): Mapping KDM6A binding sites at enhancers of immune-related genes (e.g., MHC-I/II loci in multiple myeloma) .
Role in Immune Regulation
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KDM6A deficiency reduces MHC-I/II expression by deregulating enhancers of NLRC5 and CIITA, impairing T-cell infiltration in tumors .
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In B cells, KDM6A loss disrupts class switch recombination (CSR), leading to elevated IgM and reduced IgG/IgA levels .
Cancer Biology Insights
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Bladder Cancer: Loss of KDM6A correlates with immune evasion via M2 macrophage polarization and cytokine dysregulation .
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Pancreatic Cancer: KDM6A deletion promotes squamous-like, metastatic phenotypes in female preclinical models .
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Multiple Myeloma: KDM6A deficiency decreases H3K27ac at enhancers, suppressing tumor immunogenicity .
Developmental Biology
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Germline KDM6A mutations cause Kabuki syndrome, characterized by immune dysfunction and developmental anomalies .
Table 1: Comparison of Select KDM6A Antibodies
Table 2: KDM6A Expression in Normal Tissues
| Tissue | Staining Intensity | Notes |
|---|---|---|
| Lymph Node | Moderate-Strong | Uniform nuclear staining in lymphocytes |
| Pancreas | Moderate-Strong | Stronger in ductal/islet cells vs. acinar cells |
| Testis | Absent | No staining in mature spermatogenic cells |
| Urothelium | Strong | Consistent nuclear expression in healthy bladder epithelium |
Tumor-Specific Findings:
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Bladder Cancer: Loss of KDM6A in 30–50% of non-invasive urothelial carcinomas .
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Multiple Myeloma: Low KDM6A expression linked to poor progression-free survival in females .
Challenges and Considerations
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Cross-Reactivity: Some antibodies (e.g., ab36938) show non-specific bands in Western blots .
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Sex-Specific Effects: KDM6A’s X-chromosome location necessitates gender-stratified analyses in cancer studies .
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Epigenetic Complexity: KDM6A interacts with COMPASS-like complexes, requiring co-staining with H3K27me3/acetyl markers for functional studies .
Product Specs
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Lead Time
Typically, we can ship the products within 1-3 business days of receiving your order. Delivery times may vary depending on the shipping method and location. For specific delivery timeframes, please contact your local distributor.
Synonyms
bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX) antibody; bA386N14.2 antibody; bA386N14.2 ubiquitously transcribed X chromosome tetratricopeptide repeat protein UTX antibody; DKFZp686A03225 antibody; Histone demethylase UTX antibody; KABUK2 antibody; Kdm6a antibody; KDM6A_HUMAN antibody; Lysine (K) specific demethylase 6A antibody; Lysine K specific demethylase 6A antibody; Lysine specific demethylase 6A ubiquitously transcribed tetratricopeptide repeat gene X chromosome antibody; Lysine-specific demethylase 6A antibody; MGC141941 antibody; Ubiquitously transcribed tetratricopeptide repeat X chromosome antibody; Ubiquitously transcribed tetratricopeptide repeat protein X linked antibody; Ubiquitously transcribed TPR gene on the X chromosome antibody; Ubiquitously transcribed TPR protein on the X chromosome antibody; Ubiquitously transcribed X chromosome tetratricopeptide repeat protein antibody; Ubiquitously-transcribed TPR protein on the X chromosome antibody; Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein antibody; UTX antibody
Target Names
Uniprot No.
Target Background
Function
KDM6A (also known as UTX) is a histone demethylase that specifically removes methyl groups from lysine 27 of histone H3 (H3K27). This action plays a crucial role in the histone code, a system that regulates gene expression. KDM6A demethylates both trimethylated and dimethylated H3K27, but not monomethylated H3K27. Notably, it is involved in regulating posterior development by controlling the expression of HOX genes. The demethylation of H3K27 by KDM6A is often accompanied by methylation of lysine 4 of histone H3 (H3K4), influencing the recruitment of the Polycomb Repressive Complex 1 (PRC1) and the monoubiquitination of histone H2A. Furthermore, KDM6A exhibits a demethylase-independent role in chromatin remodeling, regulating T-box family member-dependent gene expression.
Gene References Into Functions
- KDM6A mutations are observed in up to 10% of multiple myeloma cases. These mutations activate genes by removing the H3K27me3 repressive histone mark, opposing the activity of EZH2. PMID: 30166694
- Lymphomas with low KDM6A expression exhibit high levels of Efnb1, associated with significantly poorer survival outcomes. PMID: 30006524
- Data suggest that haploinsufficiency for KDM6A, due to mosaic X chromosome monosomy, may contribute to hyperinsulinism in Turner syndrome. PMID: 29902804
- Elevated KDM6A expression is independently associated with improved prognosis in patients with esophageal squamous cell carcinoma (ESCC). Downregulation of KDM6A promotes ESCC cell growth and reduces E-cadherin expression, suggesting its potential as a therapeutic target for ESCC. PMID: 29351209
- Depletion of KDM6A inhibits the expression of SOX9, Col2a1, and ACAN, resulting in increased H3K27me3 and decreased H3K4me3 levels. PMID: 29171124
- Restoring the balance of H3K27me3 levels at specific genes through EZH2 inhibitors might offer a therapeutic strategy for multiple myeloma cases harboring KDM6A mutations. PMID: 29045832
- Both KDM6A and its paralog, UTY, act as dose-dependent suppressors of urothelial bladder cancer development. PMID: 27533081
- Two novel missense mutations were identified using the TruSight One sequencing panel: p.G325A in the KDM6A gene associated with Kabuki syndrome, and p.G1877V in the SCN1A gene linked to generalized epilepsy with febrile seizures plus. PMID: 28442529
- Inactivating mutations of KDM6A, prevalent in urothelial bladder carcinoma, are potentially targetable by inhibiting EZH2. PMID: 28228601
- A mutation screening of patients with Kabuki syndrome type 1 identified 208 mutations in KMT2D. Two of the KDM6A mutations were maternally inherited, while nine were determined to be de novo. PMID: 27302555
- Data indicate that more mutations in the histone lysine demethylase KDM6A are present in non-invasive tumors from females compared to males. PMID: 29136510
- This discussion focuses on the roles of lysine 27 demethylases, JMJD3 and UTX (KDM6A), in cancer and potential therapeutic approaches targeting these enzymes. Despite significant sequence similarity in their catalytic domains, various studies have revealed contrasting roles for JMJD3 and UTX in cellular reprogramming and cancer, particularly leukemia. PMID: 27151432
- A novel de novo deletion of KDM6A was identified in a Chinese girl with Kabuki syndrome. Her allergic skin manifestations are considered part of the phenotypic spectrum of this syndrome. PMID: 27028180
- KDM6A and p21CIP1 expression are crucial for mitigating E7-induced replication stress to levels that do not significantly compromise cell viability. PMID: 28968467
- A study identified a feed-forward loop between KDM6A and ER in the regulation of hormonally responsive breast carcinogenesis. PMID: 28534508
- Mutations in the KDM6A gene are associated with cancer more frequently in males. PMID: 27869828
- Pathogenic variants in KMT2D leading to protein truncation were detected in 43% (6/14; of which 3 are novel) of all cases, while KDM6A analysis was negative. MLPA analysis was negative in all instances. PMID: 26841933
- Kdm6a and Kdm6b were found to be significantly overexpressed at the mRNA level in Malignant Pleural Mesothelioma (MPM). However, investigations into the therapeutic potential of targeting Kdm6a/b using a specific small molecule inhibitor revealed that members of the Kdm6 family may not be suitable candidates for treating MPM. PMID: 28197626
- The results establish KDM6A as a bivalency-resolving histone modifier essential for stem cell differentiation. PMID: 26762983
- UTX (KDM6A) gene expression in renal cell carcinoma and bladder cancer. PMID: 27983522
- Mutations in the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. PMID: 26898171
- KDM6A positively regulates E-cadherin expression in colon cancer cells. PMID: 26819089
- KDM6A is a prominent tumor suppressor that functions as a negative regulator of EMT-induced Cancer Stem Cell-like properties by epigenetically repressing epithelial-mesenchymal transition transcription factors. PMID: 26303947
- Kabuki syndrome can be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. PMID: 26049589
- Using a vertebrate model organism, this study provides further support for the similar roles of KMT2D and KDM6A in the etiology of Kabuki syndrome by offering direct evidence of their roles in the development of organs and tissues affected in KS patients. PMID: 25972376
- Turner Syndrome subjects, who are prone to chronic ear infections, exhibit reduced KDM6A expression in immune cells and decreased circulating CD4(+) CXCR5(+) T cell frequency. PMID: 26431949
- A report of novel KDM6A mutations in patients with Kabuki syndrome. PMID: 24527667
- The KDM6A gene is a histone demethylase specific for histone H3 lysine 27, regulating gene transcription. Alterations in KDM6A are observed in approximately 24% of urothelial carcinoma. PMID: 26138514
- This study is the first to identify frequent BAP1 and BRCA pathway alterations in bladder cancer, demonstrate that TERT promoter alterations are independent of other bladder cancer gene alterations, and reveal that KDM6A loss is a driver of the bladder cancer phenotype. PMID: 25225064
- One girl had a novel splice-site mutation in KDM6A. PMID: 24739679
- KMT2D gene mutations were identified in 10/16 (62%) of the patients, whereas none of the patients had KDM6A mutations. PMID: 25281733
- H3K27 demethylase KDM6A is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia. PMID: 25320243
- Results demonstrate that KDM6A is implicated in IL-4 mediated transcriptional activation of the ALOX15 gene. PMID: 24465480
- Results indicate that KDM6A interacts with the retinoic acid receptor alpha (RARalpha), and this interaction is crucial for proper differentiation of leukemic U937 cells in response to retinoic acid. PMID: 25071154
- Both Ezh2 and Kdm6a were shown to affect the expression of master regulatory genes involved in adipogenesis and osteogenesis. PMID: 24123378
- High levels of KDM6A or MLL4 are associated with a poor prognosis in patients with breast cancer. PMID: 24491801
- The identification of novel KDM6A mutations in patients with Kabuki syndrome. PMID: 23913813
- PBRM1, KDM6A, SETD2, and BAP1 were unmethylated in all tumor and normal specimens. PMID: 23644518
- KDM6A is overexpressed in breast cancer patients with an unfavorable prognosis (mortality at 1 year, p=8.65E-7). PMID: 23266085
- This study demonstrated that KDM6A mutations were most commonly identified in subgroups of medulloblastoma. PMID: 23184418
- KDM6A histone demethylase plays a significant functional role in the epigenetic alteration of HOX clusters during retinoic acid-induced neural differentiation. PMID: 23527641
- KDM6A contributes to the activation of WNT3 and DKK1 at different differentiation stages when these genes are required for mesendoderm and definitive endoderm differentiation. PMID: 22907667
- KDM6A regulates stem cell migration and hematopoiesis. PMID: 23365460
- Microdeletions and microduplications have not been identified in the MLL2 and KDM6A genes of a large cohort of patients with Kabuki syndrome. PMID: 22840376
- UXT (KDM6A) is a potential interactor of HBV Pol. PMID: 21515470
- PAN RNA interacts with demethylases JMJD3 and KDM6A, and the histone methyltransferase MLL2. PMID: 22589717
- The identification of KDM6A as a novel mediator with distinct functions during the re-establishment of pluripotency and germ cell development. PMID: 22801502
- This study demonstrates that KDM6A directly associates with the promoters of the Mll1, Runx1, and Scl genes and modulates their transcription by controlling H3K27me3 marks on respective promoter regions. PMID: 22306297
- This study identifies KDM6A mutations as another cause of Kabuki syndrome, highlighting the growing significance of histone methylases and histone demethylases in multiple congenital anomaly and intellectual disability syndromes. PMID: 22197486
- H3K27 demethylation by JMJD3 at a poised enhancer of the anti-apoptotic gene BCL2 determines ERalpha ligand dependency. PMID: 21841772
Database Links
Involvement In Disease
Kabuki syndrome 2 (KABUK2)
Protein Families
UTX family
Subcellular Location
Nucleus.
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