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|Synonyms||ALL-1 | CXXC7 | HRX | HTRX1 | MLL | MLL1 | MLL1A | TRX1 | WDSTS|
|Gene Description||KMT2A, lysine methyltransferase 2A, also referred to as MLL, is a transcriptional coactivator that epigenetically regulates gene transcription via methylation and is primarily associated with hematopoietic and embyronic development (PMID: 26161385). KMT2A translocations are frequently observed in specific leukemias including acute myeloid, acute lymphoblastic, and mixed lineage (PMID: 17957188, PMID: 32243611).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||KMT2A act mut indicates that this variant results in a gain of function in the Kmt2a protein. However, the specific amino acid change has not been identified.|
|fusion||fusion||unknown||KMT2A fusion indicates a fusion of the KMT2A gene, but the fusion partner is unknown.|
|inact mut||unknown||loss of function||KMT2A inact mut indicates that this variant results in a loss of function of the Kmt2a protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||KMT2A mutant indicates an unspecified mutation in the KMT2A gene.|
|rearrange||unknown||unknown||KMT2A rearrangement indicates an unspecified rearrangement of the KMT2A gene.|