Euchromatic histone-lysine N-methyltransferase 1, also known as G9a-like protein (GLP), is a protein that in humans is encoded by the EHMT1 gene. [5] EHMT1 messenger RNA is alternatively spliced to produce three predicted protein isoforms.

2024年12月24日 · EHMT1 (Euchromatic Histone Lysine Methyltransferase 1) is a Protein Coding gene. Diseases associated with EHMT1 include Kleefstra Syndrome 1 and Kleefstra Syndrome. Among its related pathways are Gene expression (Transcription) and Regulation of TP53 Activity.

2019年11月27日 · This study demonstrates that disrupting EHMT1/2 sensitizes HGSOC cells to PARPi, and suggests a potential mechanism through DNA damage and cell cycle dysregulation. RNA-Seq identifies several unexplored pathways that may alter PARPi resistance.

2010年10月5日 · EHMT1 loss of function accounts for the majority of features in Kleefstra syndrome. Current data indicate that individuals with an intragenic EHMT1 pathogenic variant (e.g., a missense, frameshift, or nonsense variant) and those with a small (<1-Mb) 9q34.3 deletion have similar clinical findings.

The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Learn about this gene and related health conditions.

2025年2月8日 · EHMT1/EHMT2 in EMT, cancer stemness and drug resistance: emerging evidence and mechanisms. EHMT1 promotes tumor progression and maintains stemness by regulating ALDH1A1 expression in alveolar rhabdomyosarcoma.

2020年12月11日 · Here the authors show that establishment of genome-wide H3K27me3 in zygotes requires EZH2, that EZH1 partially compensates for EZH2 loss, and that EHMT1 is involved in H3K27me2 establishment.

2025年1月5日 · Clinical resource with information about EHMT1, Kleefstra syndrome 1, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

HGNC Approved Gene Symbol: EHMT1. G9A (EHMT2; 604599) and GLP (EHMT1) form a protein complex that is a key histone H3 (see 602810) lys9 (H3K9) methyltransferase (Ueda et al., 2006). Ogawa et al. (2002) identified the components of the E2F6 (602944) complex, which represses transcription.

2019年11月27日 · Euchromatic histone-lysine-N-methyltransferases 1 and 2 (EHMT1/2, aka GLP/G9A) catalyze dimethylation of histone H3 lysine 9 (H3K9me2) and have roles in epigenetic silencing of gene expression. EHMT1/2 also have direct roles in DNA repair and are implicated in chemoresistance in several cancers.