ASH1L (also called huASH1, ASH1, ASH1L1, ASH1-like, or KMT2H) is a histone-lysine N-methyltransferase enzyme encoded by the ASH1L gene located at chromosomal band 1q22. ASH1L is the human homolog of Drosophila Ash1 (absent, small, or homeotic-like).

Dec 24, 2024 · ASH1L (ASH1 Like Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with ASH1L include Intellectual Developmental Disorder, Autosomal Dominant 52 and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization.

The ASH1L gene, also known as KMT2H , provides instructions for making an enzyme, called lysine-specific methyltransferase 2H, that is found in many organs and tissues of the body. Learn about this gene and related health conditions.

ASH1L-related syndrome happens when there are changes to the ASH1L gene. These changes can keep the gene from working as it should. The ASH1L gene plays a key role in brain development. It controls the activity of other genes. ASH1L-related syndrome can have mild to severe effects on the development of communication, social, and learning skills.

Apr 6, 2022 · We find haploinsufficiency of Ash1l causally induces anxiety and autistic-like behavior, including repetitive behavior, and alters social behavior. Specific depletion of Ash1l in forebrain induces similar ASD-associated behavioral defects.

May 14, 2021 · ASH1L histone methyltransferase plays a crucial role in the pathogenesis of different diseases, including acute leukemia. While ASH1L represents an attractive drug target, developing ASH1L...

Our studies are the first to provide a basic mechanistic insight into epigenetic interactions wherein placement, interpretation, and removal of H3K36me2 contribute to the regulation of gene expression and MLL leukemia, and suggest ASH1L as a novel target for therapeutic intervention.

Here we report that ASH1L is an HMTase that associates with all active genes examined. Association of ASH1L with active genes occurs irrespective of cell type. ASH1L is found at housekeeping genes and at tightly regulated tissue-specific genes, suggesting a …

Feb 9, 2025 · Our data suggest a role for ASH1L, a methyl transferase protein and member of the trithorax (Trx) family, in regulation of the HBB gene and as a potential modifier of beta-thalassaemia severity. Structural features were identified in ASH1L related to its' function and enzymatic activity.

The ASH1L gene encodes a histone methyltransferase involved in epigenetic modification of chromatin. It associates with the transcribed region of genes important in development, including homeobox (HOX) genes.