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Gene Review

AFF4  -  AF4/FMR2 family, member 4

Homo sapiens

Synonyms: AF4/FMR2 family member 4, AF5Q31, ALL1-fused gene from chromosome 5q31 protein, HSPC092, MCEF, ...
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Disease relevance of AFF4

  • Ectopic expression of MCEF did not activate HIV-1 replication, and tethering of MCEF to a promoter did not activate transcription [1].
  • Cloning of its cognate cDNA revealed that MCEF is the newest member of the AF4 family of transcription factors involved in acute lymphoblastic leukemia [1].

High impact information on AFF4

  • We have identified a second case of MLL-AF5Q31 fusion, arising from an insertion of MLL sequences into chromosome 5, also in an infant leukemia patient [2].
  • A single case of chromosomal rearrangement leading to production of an MLL fusion with AF5Q31, a gene structurally similar to AF4, has been detected recently in the malignant cells of an infant leukemia patient [2].
  • Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia [2].
  • MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b-associated protein [1].
  • In silico, the human MCEF gene was found to have 21 exons, and code for a protein with seven nuclear localization sequences (NLS) [3].

Anatomical context of AFF4

  • In HeLa cells, an MCEF-EGFP fusion protein, localized exclusively to the nucleus [3].


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