Gene Symbol | GGCX |
Entrez Gene ID | 2677 |
Full Name | gamma-glutamyl carboxylase |
Synonyms | VKCFD1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3); Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) |