TY - JOUR T1 - Factor VII Gene Defects: Review of Functional Studies and Their Clinical Implications TT - JF - انستیتو-پاستور-ایران JO - انستیتو-پاستور-ایران VL - 23 IS - 3 UR - http://ibj.pasteur.ac.ir/article-1-2709-en.html Y1 - 2019 SP - 165 EP - 174 KW - Factor VII deficiency KW - in vitro techniques KW - mutation N2 - Coagulation factors belong to a family of plasma glycosylated proteins that should be activated for appropriate blood coagulation. Congenital deficiencies of these factors cause inheritable hemorrhagic diseases. Factor VII (FVII) deficiency is a rare bleeding disorder with variable clinical symptoms. Various mutations have been identified throughout the F7 gene and can affect all the protein domains. The results of previous experiments have partly revealed the correlation between genotype and phenotype in patients with FVII deficiency. Nevertheless, each particular variant may affect the coagulative function of FVII, mainly via altering its expression level, extra-cellular secretion, tissue factor binding affinity, or proteolytic activity. The pathogenicity of the variants and molecular mechanisms responsible for clinical symptoms in patients with FVII deficiency should be characterized via in silico and in vitro, as well as in vivo functional studies. This review has highlighted the most important functional studies reported on F7 gene variants, including relevant reports regarding Iranian FVII deficiency patients. M3 10.29252/ibj.23.3.165 ER -