Vitamin K-Dependent Gamma-Carboxylase (GGCX) Human Recombinant Protein

This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]

GGCX: 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. Defects in GGCX are a cause of combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1); also known as multiple coagulation factor deficiency III (MCFD3). VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Defects in GGCX are the cause of pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD). This syndrome is characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE. Belongs to the vitamin K-dependent gamma-carboxylase family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; EC 4.1.1.90; Ligase; Lyase

Chromosomal Location of Human Ortholog: 2p12

Cellular Component: endoplasmic reticulum membrane; membrane; integral to membrane

Molecular Function: gamma-glutamyl carboxylase activity

Biological Process: cellular protein metabolic process; protein modification process; blood coagulation; post-translational protein modification; peptidyl-glutamic acid carboxylation

Disease: Pseudoxanthoma Elasticum-like Disorder With Multiple Coagulation Factor Deficiency; Vitamin K-dependent Clotting Factors, Combined Deficiency Of, 1