AFF1 Summary

This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

AFF1 Details

Gene Symbol : AFF1

Gene Name : AF4/FMR2 family member 1

Chromosome : CHR 4: 869,350,01-871,410,53

Locus : 4q21.3-q22.1

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C4ORF36 Details

Gene Symbol : C4ORF36

Gene Name : Chromosome 4 open reading frame 36

Chromosome : CHR 4: 868,972,55-868,762,04

Locus : 4q21.3

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