RUNX1 [SEP] chromosome
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. Mutations in "RUNX1" are implicated in cases of breast cancer.
Gene and protein.
In humans, the gene RUNX1 is 260 kilobases (kb) in length, and is located on chromosome 21 (21q22.12). The gene can be transcribed from
chromosome rearrangements that create oncogenic fusion genes in leukemia. The chromosome translocation t(12;21) (p13.1;q22) causes the fusion of the ETS variant 6 ("ETV6") and RUNX1 genes results in "ETV6-RUNX1" gene fusion and is the most common genetic aberration in childhood acute lymphoblastic leukemia (ALL). The “core binding factor AML” (CBF AML) [WHO classification] is the most common group of AML, including groups with the chromosome rearrangements inv(16)(p13q22) and t(8;21)(q22;q22). The chromosome translocation t(8;21)(q22;q22) creates the RUNX1-ETO