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chromosomal inversion inv(8)(p11;q13)
- chromosomal inversion inv(8)(p11;q13) involving NCOA2 may be a cause of acute myeloid leukemias
- the inversion generates the MYST3-NCOA2 oncogene, which consists of the N-terminus part of MYST3/MOZ & the C-terminus part of NCOA2/TIF2
- MYST3-NCOA2 binds to CREBBP & disrupts its function in transcription activation
Properties
GENERAL: chromosomal inversion
FORM: inv(8)(p11;q13)
LOCUS: human chromosome-8 P11
human chromosome-8 Q12
PATHOLOGY: attention-deficit hyperactivity disorder
SPLICED-GENES: histone acetyltransferase MYST3
nuclear receptor coactivator 2
References
- UniProt :accession Q4VNC1
- UniProt :accession Q15596