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FLASH GENE
Symbol FERMT3 contributors: mct - updated : 12-09-2018
HGNC name fermitin family homolog 3 (Drosophila)
HGNC id 23151
ASSOCIATED DISORDERS
corresponding disease(s) LAD3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
results in severe bleeding and resistance to arterial thrombosis
constitutional        
resulting in postnatal lethality
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • kindlin-3-deficient mice develop severe osteopetrosis because of profound adhesion and spreading defects in bone-resorbing osteoclasts
  • mice lacking Kindlin-3 in T cells were immunized with an autoantigen to induce experimental autoimmune encephalitis (EAE), a model of multiple sclerosis, and autoreactive Kindlin-3–null T cells extravasate only when the brain microvasculature expresses high integrin ligand levels
  • kindlin-3-null mice, which die perinatally of severe bleeding and leukocyte adhesion deficiency, mice expressing as little as 5p100 of kindlin-3 were viable and protected from spontaneous bleeding and infections