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AML1 or CBFA2 gene
The AML1 gene on chromosome 21 encodes a protein with a central 118-amino-acid domain with 69% homology to the Drosophila pair- rule gene, runt. AML1 is disrupted in chromosomal translocations associated with acute myelogenous leukemia:
1) (8;21)(q22;q22) ETO
2) (3;21)(q26;q22) EAP
3) (3;21)(q26;q22) EVI1
Related
core-binding factor [CBF]-alpha 2; runt-related transcription factor 1; acute myeloid leukemia 1 protein; polyomavirus enhancer binding protein 2 alpha B subunit; PEBP2-alpha B; SL3-3 enhancer factor 1 alpha B subunit;SL3/AKV core-binding factor alpha B subunit (RUNX1, AML1, CBFA2)
General
proto-oncogene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: CBF-alpha 2
LOCUS: human chromosome-21 Q22
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 151385
MORBIDMAP 151385
References
- Meyers et al,
Identification of AML-1 and the (8;21) translocation protein
(AML-1/ETO) as sequence-specific DNA-binding proteins: the
runt homology domain is required for DNA binding and protein-
protein interactions.
Mol Cell Biol 13(10):6336 1993
PMID: 8413232