The TFE3gene encodes a transcription factor with key roles in developmental pathways and embryonic stem cell differentiation. The phosphorylated TFE3 is retained in the cytoplasm, whereas dephosphorylated protein translocates to the nucleus to promote the transcription of target genes involved in lysosomal biogenesis and autophagy. The lysosomes have been found to also be key regulators of a wide range of cellular functions such as metabolic signaling.
All reported variants have been de novo. Gain-of-function missense variants and canonical splice site variants have been reported in exons 3 and 4 of the TFE3gene. Four recurrent variants have been identified. Mosaicism has been reported in some males.
TFE3