PROC Rabbit Polyclonal Antibody, 100ul Low-speed Centrifuges The gene is deleted in

The gene is deleted in Williams-Beuren syndrome| a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11

Featuring a 6-layer glass fiber film filter in natural color

SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins

Several alternatively spliced transcript variants have been described for this gene

PROC Rabbit Polyclonal Antibody, 100ul Low-speed Centrifuges The gene is deleted inThis gene encodes a vitamin K dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency neonatal purpura fulminans and recurrent venous thrombosis.