KMT2A
(Redirected from MLL (gene))
KMT2A[edit | edit source]
KMT2A, also known as lysine methyltransferase 2A, is a gene that encodes a protein involved in the regulation of gene expression through histone modification. This gene is located on chromosome 11 in humans and is a member of the SET domain family of proteins, which are known for their role in epigenetic regulation.
Function[edit | edit source]
KMT2A is a histone methyltransferase that specifically methylates histone H3 at lysine 4 (H3K4). This modification is associated with transcriptional activation and is crucial for the regulation of gene expression during development and cell differentiation. The protein encoded by KMT2A contains several important domains, including a SET domain, which is responsible for its methyltransferase activity, and PHD finger domains, which are involved in recognizing specific histone modifications.
Clinical significance[edit | edit source]
Mutations and rearrangements involving the KMT2A gene are implicated in various forms of leukemia, particularly acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). These rearrangements often result in the formation of fusion proteins that disrupt normal gene regulation and contribute to the development of cancer.
Structure[edit | edit source]
The KMT2A protein is a large, multi-domain protein that includes several zinc finger motifs, AT hooks, and a SET domain. The presence of these domains allows KMT2A to interact with DNA and other chromatin components, facilitating its role in modifying chromatin structure and regulating gene expression.
Interactions[edit | edit source]
KMT2A interacts with a variety of other proteins to form a protein complex that is essential for its function in histone methylation. These interactions include binding with WDR5, ASH2L, and RBBP5, which are components of the COMPASS complex. This complex is responsible for the trimethylation of H3K4, a key marker of active chromatin.
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