This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. [From RefSeq]
Jabbour et al, 2014, described a 24-year-old woman with vulvovaginal alveolar soft part sarcoma. Tests on the tumor cells confirmed the expression of TFE3 protein as well as the presence of the ASPL-TFE3 gene rearrangement.