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FLASH GENE

Symbol

ITGB3

contributors: mct - updated : 27-06-2017

HGNC name	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
HGNC id	6156

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

GT3

related resource

Glanzmann Thrombasthenia Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in human hepatocellular carcinoma cells (Wu 2009) constitutional     --low   significantly reduced ITGB3 expression compared to controls, in recurrent pregnancy loss constitutional     --over   ITGA2B/ITGB3 is significantly higher in atopic myelitis (AM) patients than in controls as well as in females compared with males constitutional germinal mutation     gain of function activating mutations in ITGA2B and ITGB3 represent the etiology of a subset of congenital macrothrombocytopenias

Susceptibility

in association with PAI1 in susceptibility to myocardial infarction in Finnish population (see PAI1) to cardiovascular disease to neonatal autoimmune thrombocytopenia, post transfusion to autism

Variant & Polymorphism SNP	98 C>T in susceptibility to preeclampsia
	Leu 33 associated with lower serotonin levels and with autism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive liver reconstitution of ITGB3 in hepatocellular carcinoma may be a potential therapeutic approach to inhibit aggressive growth of liver cancer neurology neurodegenerative alzheimer ITGA2B/ITGB3 complex activation could be a putative prognostic biomarker for the rate of cognitive decline and a potential new treatment target in Alzheimer patients cancer metastases   ITGB3 inhibitors are a potential therapeutic approach for blocking tumor transition to a bone destructive phenotype

ANIMAL & CELL MODELS