RUNX1
Protein-coding gene in humans / From Wikipedia, the free encyclopedia
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Runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2) is a protein that in humans is encoded by the RUNX1 gene.[5][6]
RUNX1 is a transcription factor that regulates the differentiation of hematopoietic stem cells into mature blood cells.[7] In addition it plays a major role in the development of the neurons that transmit pain.[8] It belongs to the Runt-related transcription factor (RUNX) family of genes which are also called core binding factor-α (CBFα). RUNX proteins form a heterodimeric complex with CBFβ which confers increased DNA binding and stability to the complex.
Chromosomal translocations involving the RUNX1 gene are associated with several types of leukemia including M2 AML.[9] Mutations in RUNX1 are implicated in cases of breast cancer.[10]