Preferred Label : Lysine-specific methyltransferase 2a;
Symbol : KMT2A;
CISMeF acronym : ALL1; CXXC7; HRX; KMT2A; MLL; MLL1; TRX1;
Type : Gene and phenotype, combined;
Alternative titles and symbols : Myeloid/lymphoid or mixed lineage leukemia gene; Trithorax, drosophila, homolog of; Myeloid/lymphoid leukemia gene; Mixed lineage leukemia gene; Cxxc finger protein 7; All1 gene; MLL; MLL1; TRX1; HRX; ALL1; CXXC7;
Included titles and symbols : Mixed lineage leukemia; Mll/gmps fusion gene; Mll/cdk6 fusion gene; Mll/lasp1 fusion gene; Mll/af6 fusion gene; Mll/laf4 fusion gene; Mll/af4 fusion gene; Mll/gph fusion gene; Mll/larg fusion gene; Mll/abi1 fusion gene; Mll/fbp17 fusion gene; Mll/af9 fusion gene; Mll/cbl fusion gene; Mll/lpp fusion gene; Mll/sept6 fusion gene; Mll/cip29 fusion gene; Mll/enl fusion gene; Mll/pnutl1 fusion gene; Mll/kiaa1524 fusion gene; Mll/maml2 fusion gene; Mll/af15q14 fusion gene; Mll/graf fusion gene; Mll/af10 fusion gene;
Description : The MLL gene encodes a DNA-binding protein that methylates histone H3 (see 602810)
lys4 (H3K4) and positively regulates expression of target genes, including multiple
HOX genes (see 142980). MLL is a frequent target for recurrent translocations in acute
leukemias that may be characterized as acute myeloid leukemia (AML; 601626), acute
lymphoblastic leukemia (ALL), or mixed lineage (biphenotypic) leukemia (MLL). Leukemias
with translocations involving MLL possess unique clinical and biologic characteristics
and are often associated with poor prognosis. MLL rearrangements are found in more
than 70% of infant leukemias, whether the immunophenotype is more consistent with
ALL or AML6, but are less frequent in leukemias from older children. MLL translocations
are also found in approximately 10% of AMLs in adults, as well as in therapy-related
leukemias, most often characterized as AML, that develop in patients previously treated
with topoisomerase II inhibitors for other malignancies. More than 50 different MLL
fusion partners have been identified. Leukemogenic MLL translocations encode MLL fusion
proteins that have lost H3K4 methyltransferase activity. A key feature of MLL fusion
proteins is their ability to efficiently transform hematopoietic cells into leukemia
stem cells (Krivtsov and Armstrong, 2007).;
Inheritance : Autosomal dominant (11q23);
Prefixed ID : 159555;
Origin ID : 159555;
UMLS CUI : C0919528;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- NCIt concept(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
