Analysis of F13B Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0173-LGZ)

Introduction

Also known as: FXIIIB
This gene encodes the coagulation factor XIII B subunit. Coagulation factor XIII is the last activated zymogen in the coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 a subunits and 2 b subunits. Among them, the A subunit has a catalytic effect, and the B subunit has no enzymatic activity, and can be used as a plasma carrier molecule. Platelet factor XIII consists of only 2 A subunits and is of the same origin as plasma. When thrombin cleaves the activating peptide and is activated in the presence of calcium ions, plasma factor XIII dissociates its B subunit and produces factor XIIIa, the same active enzyme as platelet factor XIII. This enzyme acts as a transglutaminase, catalyzing the formation of γ-glutamine-ε-lysine crosslinks between fibrin molecules, thereby stabilizing the fibrin clot. Factor thirteen deficiency falls into two categories: type I deficiency, which is characterized by the absence of both the A and B subunits, and type II deficiency, which is characterized by the absence of the A subunit. These defects can lead to lifelong bleeding tendencies, defective wound healing, and recurrent miscarriages.