Immunogen sequence: FPGLHLENFV SEDLGNTSIQ LLQGEVTVEL VAEQKNQTLR EGEKMQLPAG EYHKVYTTSP SPSCYMYVYV NTTELALEQD LAYLQELKEK VENGSETGPL PPELQPLLEG EVK
Highest antigen sequence identity to the following orthologs: Mouse - 96%, Rat - 97%.
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.
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Protein Aliases: FLJ26629; Gamma-glutamyl carboxylase; GGCX; Peptidyl-glutamate 4-carboxylase; Vitamin K gamma glutamyl carboxylase; Vitamin K-dependent gamma-carboxylase; VKCFD1
Gene Aliases: GC; GGCX; VKCFD1
UniProt ID: (Human) P38435
Entrez Gene ID: (Human) 2677