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Gene Symbol RUNX1
Synonyms AML1 | AML1-EVI-1 | AMLCR1 | CBF2alpha | CBFA2 | EVI-1 | PEBP2aB | PEBP2alpha
Gene Description RUNX1, RUNX family transcription factor 1, is a transcription factor that binds to core binding factor beta (CBFB) and plays a role in hematopoiesis (PMID: 22150309, PMID: 23180629). Germline inactivating mutations in RUNX1 are common in familial platelet disorder with predisposition to leukemia (PMID: 32024352) and mutations and translocations have been implicated in several other hematologic cancers (PMID: 22150309, PMID: 30289875), including acute myeloid leukemia (PMID: 32208489) and the RUNX1-ETV6 fusion is common in pediatric B-cell acute leukemia (PMID: 32024352), while RUNX1 functions as an oncogene in T-cell leukemia (PMID: 32024352) and overexpression may associate with decreased survival in renal call carcinoma (PMID: 32156779).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
861 21 21q22.12 NM_001001890 Both: Oncogene and Tumor suppressor (PMID: 30606230)
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