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GGCX (gamma-glutamyl carboxylase), also known as GC or VKCFD1 (Vitamin K-dependent gamma-carboxylase), is a 758 amino acid multi-pass membrane protein. Localized to the membrane of the endoplasmic reticulum, GGCX functions to mediate the vitamin K-dependent carboxylation of glutamate residues on target proteins, thereby producing calcium binding gamma-carboxyglutamate (Gla) residues on these proteins and simultaneously converting vitamin K to vitamin K epoxide. GGCX exists as a monomer and, via its ability to modify glutamate residues, it accomplishes the post-translational changes that are necessary for the activity of all vitamin K-dependent proteins (such as blood coagulation and bone matrix proteins). Defects in the gene encoding GGCX are the cause of combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) and PXE-like disorder with multiple coagulation factor deficiency, both of which are characterized by abnormal skin, blood or bone function.
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Protein Aliases: FLJ26629; Gamma-glutamyl carboxylase; Peptidyl-glutamate 4-carboxylase; Vitamin K gamma glutamyl carboxylase; Vitamin K-dependent gamma-carboxylase
Gene Aliases: GC; GGCX; VKCFD1
UniProt ID: (Human) P38435, (Rat) O88496, (Mouse) Q9QYC7
Entrez Gene ID: (Human) 2677, (Rat) 81716, (Mouse) 56316
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