KMT2A wt Allele

Preferred Label : KMT2A wt Allele;

NCIt synonyms : MLL; Myeloid-Lymphoid Leukemia Gene; Mixed Lineage Leukemia Gene; HTRX1; TRX1; HRX; HTRX; ALL1; MLL1A; MLL1; CXXC7; Myeloid/Lymphoid or Mixed Lineage Leukemia Gene; MLL wt Allele; ALL-1; hCG_1732268; WDSTS; Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene; Myeloid/Lymphoid Leukemia Gene; Trithorax, Drosophila, Homolog of Gene; Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog) Gene; Lysine Methyltransferase 2A wt Allele; Lysine (K)-Specific Methyltransferase 2A Gene;

NCIt definition : Human KMT2A wild-type allele is located in the vicinity of 11q23 and is approximately 89 kb in length. This allele, which encodes histone-lysine N-methyltransferase 2A protein, is involved in the modulation of transcription by RNA Polymerase II. Several acute leukemias are associated with translocations of the gene.;

NCIt note : The MLL gene is implicated in at least 10 % of acute leukemias (ALs) of various types, including acute lymphoblastic leukemias, acute non-lymphocytic leukemias, biphenotypic ALs, treatment related leukemias and infant leukemias.;

GenBank Accession Number : NM_005933;

Details

Origin ID

C53066;

UMLS CUI

C1706584;

OMIM relation
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q23 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with KMT2A Rearrangement [NCIt concept]
- Acute Myelomonocytic Leukemia without Abnormal Eosinophils [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged [NCIt concept]
- Infant Acute Lymphoblastic Leukemia with KMT2A Rearrangement [NCIt concept]
- Mixed Phenotype Acute Leukemia with KMT2A Rearrangement [NCIt concept]
gene_is_element_in_pathway
- Lysine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Hematopoietic Process [NCIt concept]
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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