DISEASES

Disease-gene associations mined from literature

Literature associating CBFA2T3 and acute erythroid leukemia

CBFA2T3 [ENSP00000268679]

Protein CBFA2T3; 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 . ECO:0000269|PubMed:12183414, ECO:0000269|PubMed:15231665, ECO:0000269|PubMed:16966434, ECO:0000269|PubMed:23251453, ECO:0000269|PubMed:23840896, ECO:0000269|PubMed:25974097,

Synonyms:  CBFA2T3,  CBFA2T3p,  hCBFA2T3,  H3BMZ0,  H3BNH2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM