9bvk
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Vitamin K-dependent gamma-carboxylase with factor IX propeptide and glutamate-rich region and with vitamin K hydroquinone
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Structural highlights
DiseaseVKGC_HUMAN Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa;Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency;Hereditary combined deficiency of vitamin K-dependent clotting factors. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. FunctionVKGC_HUMAN Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide (PubMed:17073445). Catalyzes gamma-carboxylation of various proteins, such as blood coagulation factors (F2, F7, F9 and F10), osteocalcin (BGLAP) or matrix Gla protein (MGP) (PubMed:17073445).[1] References
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This page was last modified 06:47, 19 March 2025.