Entrez gene ID | | 2677 |
Official gene symbol | | GGCX |
Full name | | gamma-glutamyl carboxylase |
Aliases | | ,FLJ26629,VKCFD1, |
Gene summary | | 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. |
Location | | Chromosome: 2 Locus: 2p12 |
Gene position | | 85788657 - 85776193 Map Viewer |
Gene orientation | | minus |
Gene size | | 12465 bp |
Gene sequence |
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OMIM ID | | 137167 |