Histone-lysine N-methyltransferase 2A, also known as acute lymphoblastic leukemia 1 (ALL-1), myeloid/lymphoid or mixed-lineage leukemia 1 (MLL1), or zinc finger protein HRX (HRX), is an enzyme that in humans is encoded by the KMT2A gene.

KMT2A encodes a lysine methyltransferase (KMT) formed of 3969 amino acids, a transcriptional co-activator which plays a crucial role in hematopoiesis, in regulating gene expression at early developmental stages, and in the control of circadian gene expression.

2024年12月25日 · KMT2A (Lysine Methyltransferase 2A) is a Protein Coding gene. Diseases associated with KMT2A include Wiedemann-Steiner Syndrome and Acute Myeloid Leukemia With T (9;11) (P22;Q23). Among its related pathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening.

KMT2A (alias: mixed-lineage leukemia [MLL]) gene mapping on chromosome 11q23 encodes the lysine-specific histone N-methyltransferase 2A and promotes transcription by inducing an open chromatin conformation.

2024年4月27日 · This document includes details about the KMT2A gene and all yet known partner genes of direct KMT2A fusion alleles (n = 112) or KMT2A::PTDs.

The KMT2A (formerly MLL) encodes the histone lysine-specific N-methyltransferase 2A and is mapped on chromosome 11q23. KMT2A is a frequent target for recurrent translocations in acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), or mixed lineage (biphenotypic) leukemia (MLL).

Lysine-specific methyl transferase 2A (KMT2A), also known as MLL1, is a promiscuous gene with over 80 different gene-fusion partners [67]. KMT2A rearrangements (KMT2A-r) are detected in 5–6% of ALL cases, most frequently in infants (1< year), which comprise a distinctive disease entity with an aggressive disease with poor prognosis [68].

2024年11月5日 · The KMT2A (lysine methyltransferase 2A) regulates hematopoiesis, cellular development, and gene expression. KMT2A mutations including genetic rearrangements (re-KMT2A), point mutations (SNV-KMT2A), and tandem duplications (KMT2A-PTD), are found in AML and may impact disease progression and treatment response.

KMT2A is targeted by miR-361-3p and modulates leukemia cell's abilities to proliferate, migrate and invade. The EGR3 regulome of infant KMT2A-r acute lymphoblastic leukemia identifies differential expression of B-lineage genes predictive for outcome.

2021年11月5日 · KMT2A partial tandem duplication (KMT2A -PTD), characterized by a large internal duplication spanning 6-8 exons, has been documented in adult AML with a prevalence of 3-10% and is associated with poor outcomes.

2022年3月15日 · KMT2A (Lysine methyltransferase 2A) is a member of the epigenetic machinery, encoding a lysine methyltransferase responsible for the transcriptional activation through lysine 4 of histone 3 (H3K4) methylation. KMT2A has a crucial role in gene expression, thus it is associated to pathol …

2023年11月2日 · KMT2A -PTD (also called MLL -PTD, partial tandem duplication), a non-fusion gene rearrangement, also occurs and serves as an important biomarker for Menin-inhibitors. Traditionally, KMT2A -PTDs are detected by RT-qPCR (quantitative real-time PCR).

2024年11月5日 · KMT2A rearrangements (KMT2Ar) in leukemia can involve fusion with other genes or partial tandem duplication (KMT2A-PTD). A small number of patients may present with both KMT2Ar and KMT2A-PTD simultaneously.

2024年8月20日 · KMT2A (alias: mixed-lineage leukemia [MLL]) gene mapping on chromosome 11q23 encodes the lysine-specific histone N-methyltransferase 2A and promotes transcription by inducing an open chromatin conformation.

2025年3月27日 · KMT2A-rearranged (KMT2A-R) ALL is a high-risk disease associated with frequent chemoresistance and poor clinical outcomes in most patients with a survival rate of <75% in children and <35% in ...

6 天之前 · Wiedemann-Steiner syndrome (WSS) is a congenital malformation syndrome characterized by intellectual disability, developmental delay, and distinctive facial features, caused by germline mutations in the KMT2A gene. Despite the key role of KMT2A in hematopoiesis, leukemia has not been previously reported in WSS patients. This report presents the first …

2022年3月15日 · KMT2A (Lysine methyltransferase 2A), also known as MLL1, is a protein coding gene mapping to human chromosome 11 (11q23.3), made up of 90,343 bases (GRCh38/hg38) and 37 exons belonging to KMTs (Lysine methyltransferases) family.

2021年11月5日 · Genetic rearrangements involving the KMT2A gene (KMT2A -R) are seen in around 10% of acute leukemia overall. KMT2A -R occurs in all ages and usually correlates with high-risk clinical features, in particular in infants aged 0-12 months of age with acute lymphoblastic leukemia (ALL).

FISH was performed using probes for common gene-fusions: BCR-ABL1, ETV6-RUNX1, KMT2A-AFF1, TCF3- HLF. 850 K CytoSNP data was analyzed using BlueFuse Multi v4.5. CNA results were verified using our cancer customized CGH + SNP array and/or FISH. We categorized B-ALL patients into IKZF1wt-other, IKZF1-Plus, and absent IKZF1-Plus.