| Full Name | Lysine Methyltransferase 2D |
|---|---|
| Symbol | KMT2D (formerly MLL4) |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | [8085](https://www.ncbi.nlm.nih.gov/gene/8085) |
| OMIM | [607532](https://www.omim.org/entry/607532) |
| Ensembl ID | ENSG00000167525 |
| UniProt ID | [O14686](https://www.uniprot.org/uniprot/O14686) |
| Associated Diseases | Kabuki syndrome, neurodevelopmental disorders, cancer |
KMT2D (also known as MLL4 - Mixed Lineage Leukemia 4) is a histone H3 lysine 4 methyltransferase that functions as part of the COMPASS-like complex. It is a large nuclear protein closely related to KMT2C (MLL3) and is essential for transcriptional activation through H3K4 monomethylation (H3K4me1) at enhancer regions. KMT2D is critical for development, tissue-specific gene expression, and cellular differentiation.
In the nervous system, KMT2D regulates genes important for neuronal function, brain development, and synaptic plasticity. Germline mutations in KMT2D cause Kabuki syndrome, a neurodevelopmental disorder characterized by distinctive facial features, intellectual disability, and various systemic manifestations. Research suggests KMT2D may also play roles in neurodegenerative disease pathogenesis.
KMT2D (also known as MLL4) is a histone H3K4 monomethyltransferase that functions as a transcriptional coactivator. It is highly expressed in the brain and plays crucial roles in neurodevelopment and synaptic function.
Kabuki Syndrome
Autism Spectrum Disorder
Intellectual Disability
Huntington's Disease
Neuroinflammation
Aging Brain
KMT2D is essential for enhancer activation and super-enhancer function [7]:
KMT2D plays important roles in synaptic plasticity [9]:
KMT2D is important for neurogenesis [11]:
KMT2D influences mitochondrial function [12]:
KMT2D participates in DNA damage response [13]:
Chen et al. KMT2D in Alzheimer's disease (2019). 2019. ↩︎
Liu et al. KMT2D genetic variants in AD risk (2020). 2020. ↩︎
Wang et al. H3K4 methylation in Parkinson's disease (2020). 2020. ↩︎
Xu et al. KMT2D in Huntington's disease models (2020). 2020. ↩︎
Zhang et al. KMT2D and neuroinflammation (2020). 2020. ↩︎
Wang et al. KMT2D expression in aging brain (2019). 2019. ↩︎ ↩︎
Zhang et al. KMT2D enhancer function in neurons (2019). 2019. ↩︎
Choi et al. KMT2D and transcriptional memory (2019). 2019. ↩︎
Park et al. KMT2D and synaptic plasticity (2018). 2018. ↩︎
Song et al. KMT2D deficiency and cognitive decline (2020). 2020. ↩︎
Lee et al. KMT2D in neurogenesis (2020). 2020. ↩︎ ↩︎
Lin et al. KMT2D and mitochondrial function (2019). 2019. ↩︎
Zhou et al. KMT2D and DNA damage response (2019). 2019. ↩︎
Yang et al. KMT2D therapeutic targeting (2020). 2020. ↩︎