Symbol
| HSF4
| contributors: mct - updated : 17-04-2010
|
HGNC name
| heat shock transcription factor 4
|
HGNC id
| 5227
|
corresponding disease(s)
|
CTM
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
|  
| loss of function
|
leads to defect in lens epithelial cell (LEC) differentiation and cataract formation | |
Susceptibility
|
to age related cataract |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
neurosensorial | | | |
HSF4-vimentin axis appears to be a new target for developing anti-cataract drugs, especially for those cataracts resulting from aberrations in HSF4 expression |
| | | |
| sf4 knockout mouse (Hsf4-/-) partially mimics the human cataract caused by HSF4 mutations |