Recombinant Human Vitamin K-dependent gamma-carboxylase (GGCX), Truncated

Uniprot Id

P38435

Target Species

Human

Target Name

GGCX

Target Full Name

Vitamin K-dependent gamma-carboxylase

Target Function

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.

Target Involvement

Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1); Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Target Protein Families

Vitamin K-dependent gamma-carboxylase family

Target Synonyms

GGCX; GC; Vitamin K-dependent gamma-carboxylase; Gamma-glutamyl carboxylase; Peptidyl-glutamate 4-carboxylase; Vitamin K gamma glutamyl carboxylase

Target Background

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.