基因名:
GGCX
产品别名:
VKCFD1; GGCX; gamma-glutamyl carboxylase; gamma-glutamyl carboxylase; vitamin K-dependent gamma-carboxylase; peptidyl-glutamate 4-carboxylase; γ-谷氨酰羧化酶;
背景信息:
This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]