Two types of CEBPA mutations are observed in AML: N-terminal mutations leading to selective loss of the C/EBPα 42 kDa isoform (p42) while preserving translation of the 30-kDa isoform (p30), and C-terminal mutations that disable DNA binding of both C/EBPα p42 and p30, while preserving the leucine zipper dimerization domain. The gene discussed is CEBPA; the disease is acute myeloid leukemia.