PAI-1 Polyclonal Antibody, 100ul Shakers Mutations in this gene cause

Mutations in this gene cause a multiple congenital anomaly syndrome in human patients

GO annotations related to this gene include nucleic acid binding and damaged DNA binding

ITGB4 encodes Integrin beta-4

Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3)

to either nonfunctional or mislocalized AQP2 protein

PAI-1 Polyclonal Antibody, 100ul Shakers Mutations in this gene causeSERPINE1 encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in SERPINE1 are the cause of plasminogen activator inhibitor 1 deficiency (PAI 1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding