Author: Nat Pernick, M.D. (see Authors page)

Revised: 4 December 2015, last major update July 2012

Copyright: (c) 2003-2015,, Inc.

PubMed Search: runx1
Cite this page: RUNX1. website. Accessed July 21st, 2018.
Definition / general
  • Transcription factor RUNt-related transcription factor ("X") 1
  • Also called core-binding factor subunit alpha-2 (CBFA2); previously called AML1
  • Heterodimeric transcription factor that binds to core element of many enhancers and promoters; protein encoded by this gene represents the alpha subunit of CBF (NCBI-Gene)
  • Essential for establishment of definitive hematopoiesis during embryonic development
  • Obligate non-DNA binding partner is core binding factor β (CBFβ)
  • In adult blood homeostasis, plays pivotal role in maturation of lymphocytes and megakaryocytes (Nat Commun 2012;3:717); also required for regulation of hematopoietic stem and progenitor cells (Blood 2012;119:4152)
  • Also important in neuronal differentiation (PLoS One 2012;7:e29852)
  • Disruption of RUNX1 function is major cause of hematopoietic malignancy, including myelodysplastic syndromes and AML (Haematologica 2012;97:534)
  • Genes for RUNX1 and CBFβ are targeted by translocations important in AML (Crit Rev Oncog 2011;16:77)
Clinical features
Uses by pathologists
  • Important in classifying hematopoietic malignancies
Microscopic (histologic) images

Importance of RUNX1 in establishment of definitive hematopoiesis during embryonic development

Positive staining - normal