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The protein encoded by EHMT1 is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. Additionally we are shipping EHMT1 Kits (4) and EHMT1 Proteins (4) and many more products for this protein.
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our biochemical characterization clearly demonstrates that the previously reported two missense mutations of EHMT1 deteriorate HMT (show HNMT Antibodies) activity and GLP (show RCBTB1 Antibodies) function, which presumably cause KS.
Neurodevelopmental disorders may be related to deficits in activity-dependent wiring of brain circuits during development. Although Kleefstra syndrome has been associated with dendritic and synaptic defects in mice and Drosophila, little is known about the role of EHMT1 in the development of cortical neuronal networks. We investigated the impact of EHMT1 deficiency at the network and single cell level.
These results suggest that EHMT2 (show EHMT2 Antibodies) downregulation in CD4 (show CD4 Antibodies)(+) T-cells may be linked to a protection mechanism against the development of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM (show ATF7IP Antibodies)/TSP (show THBS1 Antibodies)).
Regulated methylation and phosphorylation serve as a switch controlling G9a (show EHMT2 Antibodies) and GLP (show RCBTB1 Antibodies) coactivator function, suggesting that this mechanism may be a general paradigm for directing specific transcription factor and coregulator actions on different genes.
trr (show TXNRD1 Antibodies) and G9a (show EHMT2 Antibodies) also have common direct targets, including the Drosophila ortholog of Arc (show NOL3 Antibodies) (Arc1 (show CDH1 Antibodies)), a key regulator of synaptic plasticity. Our data highlight the clinical and molecular convergence between the KMT2 and EHMT protein families, which may contribute to a molecular network underlying a larger group of intellectual disability / autism spectrum disorder -related disorders.
missense variants in EHMT1 that lead to protein misfolding and disrupted histone mark binding can lead to Kleefstra Syndrome [case reports]
we find an estrogen receptor (show ESR1 Antibodies)-independent synthetic lethal interaction between a GATA3 (show GATA3 Antibodies) frameshift mutant with an extended C-terminus and the histone methyltransferases G9A (show EHMT2 Antibodies) and GLP (show RCBTB1 Antibodies), indicating perturbed epigenetic regulation
Selective degradation of the mutant EHMT1 mRNA leads to Kleefstra syndrome.
G9a (show EHMT2 Antibodies) and GLP (show RCBTB1 Antibodies) are required for stable maintenance of imprinted DNA methylation (show HELLS Antibodies) in embryonic stem cells.
the clinical picture we found in Norwegian patients with Kleefstra syndrome is similar to the findings described in the literature. An interesting point is that in the literature >85% of the patients have a deletion of 9q34.3 and the remaining have a mutation in the EHMT1 gene, whereas in this study we found 50% with a deletion, and 50% with a mutation.
EHMT1 deficiency impaired neural network activity during the transition from uncorrelated background action potential firing to synchronized network bursting. Spontaneous bursting and excitatory synaptic currents were transiently reduced, whereas miniature excitatory postsynaptic currents were not affected.
GLP (show GOLGA6A Antibodies)/G9a (show EHMT2 Antibodies) H3K9 methyltransferase complex is an enzyme counteracting Jmjd1a (show KDM3A Antibodies)-mediated H3K9 demethylation at the Sry (show SRY Antibodies) locus in gonadal somatic cells
miR (show MLXIP Antibodies)-217-mediated, genetic, or pharmacological inactivation of EHMT1/2 was sufficient to promote pathological hypertrophy
EHMT1 Mediates Homeostatic Synaptic Scaling
The stress-induced Brg1 (show SMARCA4 Antibodies)-G9a (show EHMT2 Antibodies)/GLP (show GOLGA6A Antibodies)-Dnmt3 interactions and sequence of repressive chromatin assembly on Myh6 (show MYH6 Antibodies) promoter illustrates a molecular mechanism by which the heart epigenetically responds to environmental signals.
data provide genetic and pharmacologic evidence that EHMT1 and EHMT2 (show EHMT2 Antibodies) are epigenetic regulators involved in gamma-globin repression and represent a novel therapeutic target for SCD (show SCD Antibodies).
histone methyltransferase activities of GLP (show GOLGA6A Antibodies) and G9a (show EHMT2 Antibodies) are stimulated by neighboring nucleosomes that are premethylated at H3K9
Prdm16 (show PRDM16 Antibodies) was required in young mice to suppress the expression of white-fat-selective genes in BAT (show BAAT Antibodies) through recruitment of the histone methyltransferase Ehmt1.
G9a (show EHMT2 Antibodies) and GLP (show GOLGA6A Antibodies) have an essential role in normal morphogenesis of the atrioventricular septum through regulation of the size of the atrioventricular cushion.
Reduced Euchromatin histone methyltransferase 1 (show DNMT1 Antibodies) causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.
The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome). Two transcript variants encoding different isoforms have been found for this gene.
G9a like protein
, G9a-like protein 1
, H3-K9-HMTase 5
, histone H3-K9 methyltransferase 5
, histone-lysine N-methyltransferase EHMT1
, histone-lysine N-methyltransferase, H3 lysine-9 specific 5
, lysine N-methyltransferase 1D
, euchromatic histone methyltransferase 1
, euchromatic histone-lysine N-methyltransferase 1
, histone-lysine N-methyltransferase, H3 lysine-9 specific 5-like
, euchromatic histone methyltransferase 1a
, histone methyltransferase 1