The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22.

TFE3, a member of the helix-loop-helix family of transcription factors, binds to the microE3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types. We have localized human TFE3 to the proximal short arm of the X chromosome using a somatic cell hybrid panel. A frequent RsaI RFLP detected by the TFE3 cDNA was found and used to confirm this location by linkage analysis in 20 pedigrees. Two-point and multipoint lod scores place TFE3 near markers in Xp11.22 with the most likely order DXS7-DXS255-TFE3-DXS146-DXS14.