RUNX1

(redirected from CBFA2)

RUNX1

A gene on chromosome 21q22.3 that encodes the alpha subunit of core binding factor (CBF), a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. RUNX1 is thought to be involved in the development of normal haematopoiesis. 

Molecular pathology
Chromosomal translocations involving RUNX1 are well documented and associated with several types of leukaemia.
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References in periodicals archive ?
Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia.
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
Speck, "Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis," Proceedings of the National Academy of Sciences of the United States of America, vol.
In patients with impaired platelet aggregation associated with a heterozygous mutation in transcription factor CBFA2, the expression of myosin regulatory light chain 9 was selectively decreased about 77-fold (Sun, K et al., 2007; Sun, L et al., 2007).
(5) RUNX1 was the first CBF gene to be isolated and has been known by a number of names including AML1, PEBPA2B, and CBFA2. AML1 remains the most commonly used name in the literature.