Presku: | AAP44340 |
Size: | 100 ug |
Weight: | 87kDa |
Gene: | 2677 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | FLJ26629; VKCFD1 |