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The protein encoded by EHMT1 is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. 再加上，我们可以发EHMT1 抗体 (145) 和 EHMT1 试剂盒 (4)和数多这个蛋白质的别的产品。
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Individuals with EHMT1 mosaicism seem to have increased vulnerability for developing severe psychopathology, especially ASD (显示 ARSD 蛋白) and mood disorders.
our biochemical characterization clearly demonstrates that the previously reported two missense mutations of EHMT1 deteriorate HMT activity and GLP 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 (显示 EHMT2 蛋白) downregulation in CD4 (显示 CD4 蛋白)(+) T-cells may be linked to a protection mechanism against the development of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP (显示 THBS1 蛋白)).
Regulated methylation and phosphorylation serve as a switch controlling G9a and GLP coactivator function, suggesting that this mechanism may be a general paradigm for directing specific transcription factor and coregulator actions on different genes.
trr (显示 TXNRD1 蛋白) and G9a (显示 EHMT2 蛋白) also have common direct targets, including the Drosophila ortholog of Arc (显示 NOL3 蛋白) (Arc1 (显示 CDH1 蛋白)), 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-independent synthetic lethal interaction between a GATA3 frameshift mutant with an extended C-terminus and the histone methyltransferases G9A and GLP, indicating perturbed epigenetic regulation
Selective degradation of the mutant EHMT1 mRNA leads to Kleefstra syndrome.
G9a (显示 EHMT2 蛋白) and GLP (显示 RCBTB1 蛋白) are required for stable maintenance of imprinted DNA methylation (显示 HELLS 蛋白) in embryonic stem cells.
reduced levels of EHMT1 protein in Ehmt1(+/-) mice does not result in general learning deficits in a touchscreen-based battery, but leads to increased adult cell proliferation in the hippocampus and enhanced pattern separation ability.
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/G9a (显示 EHMT2 蛋白) H3K9 methyltransferase complex is an enzyme counteracting Jmjd1a (显示 KDM3A 蛋白)-mediated H3K9 demethylation at the Sry (显示 SRY 蛋白) locus in gonadal somatic cells
miR (显示 MLXIP 蛋白)-217-mediated, genetic, or pharmacological inactivation of EHMT1/2 was sufficient to promote pathological hypertrophy
EHMT1 Mediates Homeostatic Synaptic Scaling
The stress-induced Brg1 (显示 SMARCA4 蛋白)-G9a (显示 EHMT2 蛋白)/GLP-Dnmt3 interactions and sequence of repressive chromatin assembly on Myh6 (显示 MYH6 蛋白) promoter illustrates a molecular mechanism by which the heart epigenetically responds to environmental signals.
data provide genetic and pharmacologic evidence that EHMT1 and EHMT2 (显示 EHMT2 蛋白) are epigenetic regulators involved in gamma-globin repression and represent a novel therapeutic target for SCD (显示 SCD 蛋白).
histone methyltransferase activities of GLP and G9a (显示 EHMT2 蛋白) are stimulated by neighboring nucleosomes that are premethylated at H3K9
Prdm16 (显示 PRDM16 蛋白) was required in young mice to suppress the expression of white-fat-selective genes in BAT (显示 BAAT 蛋白) through recruitment of the histone methyltransferase Ehmt1.
G9a and GLP have an essential role in normal morphogenesis of the atrioventricular septum through regulation of the size of the atrioventricular cushion.
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