Aliases for GGCX Gene
External Ids for GGCX Gene
Previous GeneCards Identifiers for GGCX Gene
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]
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 Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Biosynthesis of cofactors. Gene Ontology (GO) annotations related to this gene include gamma-glutamyl carboxylase activity.
UniProtKB/Swiss-Prot Summary 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.