Literature associating TFE3 and Waardenburg syndrome type 2A
Transcription factor binding to IGHM enhancer 3; Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF. In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T- cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site; Basic helix-loop-helix proteins
Synonyms: TFE3, TFE3p, hTFE3, A0A024QZ23, B4DIA5 ...