Protein-coding gene in humans
RUNX1T1 |
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Identifiers |
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Aliases | RUNX1T1, AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2, AML1-MTG8, t(8;21)(q22;q22), RUNX1 translocation partner 1, RUNX1 partner transcriptional co-repressor 1 |
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External IDs | OMIM: 133435 MGI: 104793 HomoloGene: 3801 GeneCards: RUNX1T1 |
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Wikidata |
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Protein CBFA2T1 is a protein that in humans is encoded by the RUNX1T1 gene.[5][6][7]
Function
The protein encoded by this gene is a putative zinc finger transcription factor and oncoprotein. In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Several transcript variants encoding multiple isoforms have been found for this gene.[7]