Entity Details

Primary name GGCX
Entity type gene
Source Source Link

Details

PrimaryID2677
RefseqGeneNG_011811
SymbolGGCX
Namegamma-glutamyl carboxylase
Chromosome2
Location2p11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-03-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsVKGC_HUMAN

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0006464 cellular protein modification process
GO:0007596 blood coagulation
GO:0008488 gamma-glutamyl carboxylase activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0017187 peptidyl-glutamic acid carboxylation
GO:0019842 vitamin binding

Diseases

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Disease IDSourceNameDescription
277450 OMIMCombined 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. The disease is caused by variants affecting the gene represented in this entry.
610842 OMIMPseudoxanthoma 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 analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE. The disease is caused by variants affecting the gene represented in this entry.