Disease-gene associations mined from literature

Literature associating CBFA2T3 and acute erythroid leukemia

CBFA2T3 [ENSP00000268679]

Core-binding factor, runt domain, alpha subunit 2; translocated to, 3; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway. Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A. Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Plays a role in granulocyte differentiation; A-kinase anchoring proteins

Synonyms:  CBFA2T3,  CBFA2T3p,  hCBFA2T3,  B3KR45,  H3BMZ0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM