Full name: gamma-glutamyl carboxylase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: VKCFD1

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]

Expression: Ubiquitous expression in liver (RPKM 18.5), thyroid (RPKM 16.4) and 25 other tissues

Gene size: 16774bp

Exon count: 15