Aliases for GGCX Gene
Aliases for GGCX Gene
External Ids for GGCX Gene
- HGNC: 4247
- NCBI Gene: 2677
- Ensembl: ENSG00000115486
- OMIM®: 137167
- UniProtKB/Swiss-Prot: P38435
Previous GeneCards Identifiers for GGCX Gene
- GC02M085671
- GC02M086070
- GC02M085733
- GC02M085750
- GC02M085687
- GC02M085629
- GC02M085774
- GC02M085673
- GC02M085771
Summaries for GGCX Gene
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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 Diseases of hemostasis and Vitamin K metabolism and activation of dependent proteins. 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 (PubMed:17073445). Catalyzes gamma-carboxylation of various proteins, such as blood coagulation factors (F2, F7, F9 and F10), osteocalcin (BGLAP) or matrix Gla protein (MGP) (PubMed:17073445). ( VKGC_HUMAN,P38435 )