GGCX

This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

本基因编码粗糙内质网上的一个整合膜蛋白，该蛋白将依赖维生素K的蛋白中的谷氨酸残基羧化为γ-羧基谷氨酸，这种修饰对于其活性是必需的。依赖维生素K的蛋白底物含有前肽，能够与酶结合，并作为共底物参与反应的有二氧化碳、二氧化物和还原型维生素K。依赖维生素K的蛋白影响多种生理过程，包括血液凝固、预防血管钙化以及炎症。本基因的等位基因变异与类似假性弹黄瘤的疾病相关，并伴随多个凝血因子的缺乏。选择性剪接导致多种转录本变体。[由RefSeq提供，2015年8月]