DISEASES

Disease-gene associations mined from literature

Literature associating TFE3 and Wiskott-Aldrich syndrome

TFE3 [ENSP00000314129]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM