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chromosomal inversion inv(16)(p13.1;q22.1)
- inversion inv(16)(p13q22) involving CBFB with MYH11 is associated with AML-M4
- inversion results in a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2-beta) with the tail region of MYH11
- the PEPB2-MYH11 fusion protein interacts with HDAC8 & RUNX1
Properties
GENERAL: chromosomal inversion
FORM: inv(16)(p13.1;q22.1)
LOCUS: human chromosome-16 P13
human chromosome-16 Q22
SPLICED-GENES: core-binding factor [CBF]-beta
myosin heavy chain 11
HDAC8
RUNX1
References
UniProt :accession Q9BY41