Abstract：
γ-glutamyl carboxylase (GGCX), also known as vitamin K-dependent glutamyl carboxylase, catalyzes the posttranslational modification of specific glutamate residues in vitamin K-dependent proteins (VKDPs), and participates multiple biological functions including blood coagulation, bone metabolism, vascular calcification, and cell proliferation. It has been reported originally that GGCX pathogenic variation causes blood coagulation deficiency, which is called as vitamin K-dependent coagulation factor deficiency 1 (VKCFD1). Recently, it has been found that GGCX gene variation results in multiple clinical phenotypes, including dermatological, ophthalmological, skeletal or cardiac abnormalities. Among them, dermatological phenotype is the most common, which is known as pseudoxanthoma elasticum-like syndrome. This paper has reviewed the GGCX pathogenic variation associated phenotypes, in order to increase the recognition of GGCX-related genetic diseases and to help its diagnosis and treatment.
摘要：
γ-谷氨酰羧化酶（GGCX），也被称为维生素K依赖性谷氨酰羧化酶，催化维生素K依赖性蛋白（VKDP）中特定谷氨酸残基的翻译后修饰，并参与多种生物学功能，包括血液凝固，骨代谢，血管钙化,和细胞增殖。最初有报道称GGCX致病变异导致血液凝固缺陷，这被称为维生素K依赖性凝血因子缺乏症1（VKCFD1）。最近,已经发现GGCX基因变异导致多种临床表型，包括皮肤病学,眼科,骨骼或心脏异常。其中,皮肤病学表型是最常见的，这就是所谓的弹性假性黄瘤样综合征。本文综述了GGCX致病变异相关表型,以提高对GGCX相关遗传病的认识,帮助其诊断和治疗。
