gamma-glutamyl carboxylase

Biochem/physiol Actions

GGCX is 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.Gamma-glutamyl carboxylase accomplishes the posttranslational modification required for the activity of all of the vitamin K-dependent proteins (Wu et al., 1991 [PubMed 1749935]). These include some of the blood coagulation and anticoagulation proteins as well as bone gamma-carboxyglutamic acid (Gla) protein (BGLAP; MIM 112260) and bone matrix protein (MGP; MIM 154870).[supplied by OMIM]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.