Analysis of GGCX Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1680-LGZ)

Introduction

Official Full Name: gamma-glutamyl carboxylase
Also known as: VKCFD1
This gene encodes an integral membrane protein of the crude endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma-carboxyglutamate, a modification necessary for their activity. The vitamin K-dependent protein substrate has an enzyme-binding propeptide with carbon dioxide, carbon dioxide, and reduced vitamin K as cosubstrates. Vitamin K-dependent proteins affect many physiological processes, including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants in this gene have been associated with multiple coagulation factor deficiencies associated with pseudoxanthoma elasticum. Alternative splicing results in multiple transcript variants.