Gamma-glutamyl carboxylase

Gamma-glutamyl carboxylase
Identifiers
Symbols	GGCX ; VKCFD1
External IDs	OMIM: 137167 MGI: 1927655 HomoloGene: 639 ChEMBL: 2012 GeneCards: GGCX Gene
EC number	4.1.1.90
Gene ontology Molecular function • gamma-glutamyl carboxylase activity Cellular component • endoplasmic reticulum membrane • membrane • integral component of membrane Biological process • cellular protein modification process • blood coagulation • peptidyl-glutamic acid carboxylation • post-translational protein modification • cellular protein metabolic process Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE GGCX 205351 at tn.png
File:PBB GE GGCX 214006 s at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2677	56316
Ensembl	ENSG00000115486	ENSMUSG00000053460
UniProt	P38435	Q9QYC7
RefSeq (mRNA)	NM_000821	NM_019802
RefSeq (protein)	NP_000812	NP_062776
Location (UCSC)	Chr 2: 85.54 – 85.56 Mb	Chr 6: 72.41 – 72.43 Mb
PubMed search	[1]	[2]

Gamma-glutamyl carboxylase is an enzyme that in humans is encoded by the GGCX gene, located on chromosome 2 at 2p12.

Function

Gamma-glutamyl carboxylase is an enzyme that catalyzes the posttranslational modification of vitamin K-dependent proteins. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Most gla domain-containing proteins depend on this carboxylation reaction for posttranslational modification. In humans, the gamma-glutamyl carboxylase enzyme is most highly expressed in the liver.

Catalytic reaction

Gamma-glutamyl carboxylase oxidizes Vitamin K hydroquinone to Vitamin K 2,3 epoxide, while simultaneously adding CO₂ to protein-bound glutamic acid (abbreviation = Glu) to form gamma-carboxyglutamic acid (also called gamma-carboxyglutamate, abbreviation = Gla). The carboxylation reaction will only proceed if the carboxylase enzyme is able to oxidize vitamin K hydroquinone to vitamin K epoxide at the same time; the carboxylation and epoxidation reactions are said to be coupled reactions.

Clinical significance

Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency.

See also

• Carboxyglutamate

External links

• glutamyl carboxylase at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.