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FLASH GENE
Symbol ENG contributors: mct - updated : 28-03-2015
HGNC name endoglin
HGNC id 3349
ASSOCIATED DISORDERS
corresponding disease(s) ORW1 , JPS4
related resource Hemorrhagic Telangiectasia Mutation Database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
higher in effusions compared to primary breast carcinomas and in post-chemotherapy compared to pre-chemotherapy effusion
constitutional     --over  
higher expression in severe preeclampsia or eclampsia than in normal pregnancy
tumoral     --low  
in prostate cancer
constitutional     --low  
independent predictor of short-term (30 days) cardiovascular mortality, and also predicts overall cardiovascular mortality during the follow-up in acute myocardial infarction
constitutional     --over  
in capillary hemangiomas
Susceptibility to intracranial aneurysm
Variant & Polymorphism
Candidate gene
Marker
Therapy target
  • powerful tool in the prevention of pre-eclampsia -induced mortality
  • may be an important therapeutic target in metastatic breast cancer
  • targets for therapeutic intervention for patients with brain arteriovenous malformations
  • ANIMAL & CELL MODELS