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ggcx

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Official Full Name
gamma-glutamyl carboxylase
Background
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.
Synonyms
GGCX; gamma-glutamyl carboxylase; vitamin K-dependent gamma-carboxylase; vitamin K dependent gamma carboxylase; VKCFD1; FLJ26629; Gamma glutamyl carboxylase; GC; Peptidyl glutamate 4 carboxylase; Peptidyl-glutamate 4-carboxylase; Vitamin K gamma glutamyl carboxylase; VKCFD 1; VKGC_HUMAN; OTTHUMP00000160676; OTTHUMP00000203090

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