<i>Kmt2c</i>/<i>Mll3</i> Haploinsufficiency Causes Autism-like Behavioral Deficits in Mice.

ABSTRACT: KMT2C (histone lysine N-methyltransferase 2C, also known as MML3, myeloid/lymphoid or mixed-lineage leukemia 3) is a causal gene for Kleefstra syndrome 2, a rare neurodevelopmental disorder. Recent human genetic studies have identified it as a high-risk gene for autism spectrum disorder (ASD), with 79% of patients harboring KMT2C variants having ASD. However, the causal link between KMT2C haploinsufficiency and ASD remains unclear. KMT2C/MLL3 encodes a histone methyltransferase, a core protein of the KMT2C/D COMPASS (complex proteins associated with Set1) complex, which plays fundamental roles in chromatin modification, occupancy, and gene expression. The expression of KMT2C/Kmt2c peaks during the developmental period in the human/mou

SUBMITTER: Ma K 

PROVIDER: S-EPMC12650575 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature