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FLASH GENE
Symbol HSF4 contributors: mct - updated : 17-04-2010
HGNC name heat shock transcription factor 4
HGNC id 5227
ASSOCIATED DISORDERS
corresponding disease(s) CTM
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
SystemTypeDisorderPubmed
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
ANIMAL & CELL MODELS
sf4 knockout mouse (Hsf4-/-) partially mimics the human cataract caused by HSF4 mutations