Transcription Factor EB (TFEB)

Transcription factors of the basic helix-loop-helix zipper (bHLH-ZIP) family contain a basic domain, used for DNA binding, and HLH and ZIP domains, both used for oligomerization. TFEB was isolated from a human B-cell cDNA library using a binding sequence from the adenovirus major late promoter.TFEB fuses with the Alpha gene at 11q13, an intronless gene that does not contribute coding sequence to the fusion product. In the 2 primary tumors the Alpha gene rearranged with the first intron of TFEB, just upstream of TFEB's initiation ATG, preserving the entire TFEB coding sequence. Fluorescence in situ hybridization confirmed the involvement of both TFEB and Alpha in this translocation. Although the Alpha promoter drives expression of this fusion gene, the Alpha gene does not contribute to the ORF.