Target intelligence / Profile preview

Mixed-lineage leukemia protein (MLL)

Target
MLL
Molecular classification
Histone lysine methyltransferase, Transcription factor, Epigenetic regulator
01

Overview

The mixed-lineage leukemia protein is a crucial epigenetic regulator whose disruption by chromosomal translocation underlies some of the most aggressive forms of childhood acute leukemias. Its pathogenicity stems from loss-of-function mutations combined with gain-of-function activities conferred by diverse fusion partners that hijack normal hematopoietic differentiation programs through abnormal chromatin remodeling and sustained activation of key developmental regulators like HOX genes. This makes it both a central biomarker for diagnosis/prognosis and an attractive therapeutic target in oncology research focused on epigenetic modulation.

Other names
MLL1KMT2A
02

Mechanism of action

Inhibition of DOT1L enzymatic activity, disruption of Menin/MLL or LEDGF/MLL interactions, interference with super elongation complex components

03

Biological functions

Regulation of developmental genesH3K4 trimethylationTranscriptional co-activationChromatin modification
04

Disease associations

Acute lymphoblastic leukemia (ALL)Acute myeloid leukemia (AML)
05

Safety considerations

Poor prognosis associated with MLL rearrangementsTherapeutic resistance
06

Biomarkers

MLL rearrangements (translocations)

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