Aliases for GGCX Gene
External Ids for GGCX Gene
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]
GeneCards Summary for GGCX Gene
GGCX (Gamma-Glutamyl Carboxylase) is a Protein Coding gene. Diseases associated with GGCX include pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency and hemorrhagic disease. Among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism. GO annotations related to this gene include gamma-glutamyl carboxylase activity.
UniProtKB/Swiss-Prot for GGCX Gene
Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.