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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

  1. UniProt :accession Q4VNC1
  2. UniProt :accession Q15596