| lysine (K)-specific methyltransferase 2A | OKDB#: 3576 |
| Symbols: | KMT2A | Species: | human | ||
| Synonyms: | HRX, MLL, TRX1, ALL-1, CXXC7, HTRX1, MLL1A, WDSTS, MLL/GAS7, TET1-MLL,HRX, TRX1, ALL-1, CXXC7, HTRX1, MLL1A,TRITHORAX, DROSOPHILA, HOMOLOG OF, TRX1|HRX|MYELOID/LYMPHOID LEUKEMIA|MIXED LINEAGE LEUKEMIA|ALL1|CXXC FINGER PROTEIN 7, CXXC7|MLL/GMPS FUSION GENE | Locus: | 11q23 in Homo sapiens |
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| General Comment | NCBI Summary: This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] | ||||
| General function |
, Epigenetic modifications |
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| Comment | The role of the MLL gene in infant leukemia. Eguchi M et al. The MLL gene is a major player in leukemia, particularly in infant leukemia and in secondary, therapy-related acute leukemia. The normal MLL gene plays a key role in developmental regulation of gene expression (including HOX genes), and in leukemia this function is subverted by breakage, recombination, and chimeric fusion with one of 40 or more alternative partner genes. In infant leukemias, the chromosome translocations involving MLL arise during fetal hematopoiesis, possibly in a primitive lymphomyeloid stem cell. In general, these leukemias have a very poor prognosis. The malignancy of these leukemias is all the more dramatic considering their very short preclinical natural history or latency. These data raise fundamental issues of how such divergent MLL chimeric genes transform cells, why they so rapidly evolve to a malignant status, and what alternative or novel therapeutic strategies might be considered. We review here progress in tackling these questions. | ||||
| Cellular localization | Nuclear | ||||
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| Ovarian localization | Oocyte | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Sept. 20, 2006, 3:23 p.m. | by: |
amazinmazin email:
home page: |
| last update: | July 7, 2013, 12:20 p.m. | by: | hsueh email: |
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