GGCX
Function
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).
Involvement in disease
Combined deficiency of vitamin K-dependent clotting factors 1
VKCFD1
VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K.
None
The disease is caused by variants affecting the gene represented in this entry.
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
PXEL-MCFD
Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyses revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the vitamin K-dependent gamma-carboxylase family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
GC, GGCX, Vitamin K-dependent gamma-carboxylase, Gamma-glutamyl carboxylase, Peptidyl-glutamate 4-carboxylase, Vitamin K gamma glutamyl carboxylase