Symbol
| TFEB
| contributors: mct - updated : 11-04-2022
|
HGNC name
| transcription factor EB
|
HGNC id
| 11753
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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tumoral
| fusion
|  
|  
|  
|
BYSL-TFEB fusion in sarcomatoid renal cell tumor | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
metabolism | lysosome | | |
induction of lysosomal exocytosis by TFEB overexpression rescued pathologic storage and restored normal cellular morphology in lysosomal storage diseases (LSDs) | neurology | neurodegenerative | huntington chorea | |
PPARGC1A upstream of TFEB are important therapeutic targets in HD and potentially other neurodegenerative disorders caused by protein misfolding | cancer | reproductive | breast | |
pharmacological activation of TFEB would be a promising therapeutic approach to improve the efficacy of existing treatment including immune therapies for breast cancer | cardiovascular | cardiomyopathy | | |
Activation of TFEB represents a potential therapeutic strategy for treating cardiac hypertrophy |
| | | |
| mice with a targeted disruption of Tfeb die between 9.5 and 10.5 days in embryonic development and have severe defects in placental vascularization | |
combined inactivation of Tfe3 and TfeB in T cells resulted in a hyper-immunoglobulin M syndrome due to impaired expression of CD40 ligand by CD4(+) T cells |