The Full Wiki

Gamma-glutamyl carboxylase: Wikis


Note: Many of our articles have direct quotes from sources you can cite, within the Wikipedia article! This article doesn't yet, but we're working on it! See more info or our list of citable articles.


From Wikipedia, the free encyclopedia

Gamma-glutamyl carboxylase
Symbols GGCX; FLJ26629; VKCFD1
External IDs OMIM137167 MGI1927655 HomoloGene639 GeneCards: GGCX Gene
RNA expression pattern
PBB GE GGCX 205351 at tn.png
PBB GE GGCX 214006 s at tn.png
More reference expression data
Species Human Mouse
Entrez 2677 56316
Ensembl ENSG00000115486 ENSMUSG00000053460
UniProt P38435 Q3TME3
RefSeq (mRNA) NM_000821 NM_019802
RefSeq (protein) NP_000812 NP_062776
Location (UCSC) Chr 2:
85.63 - 85.64 Mb
Chr 6:
72.34 - 72.36 Mb
PubMed search [1] [2]

Gamma-glutamyl carboxylase is an enzyme which in humans is encoded by the GGCX gene.[1]



This gene encodes an enzyme which 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.[2] Most gla domain-containing proteins depend on this carboxylation reaction for posttranslational modification.[3] In humans, the gamma-glutamyl carboxylase enzyme is most highly expressed in the liver.

Catalytic reaction

Gamma-glutamyl carboxylase is an enzyme which 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.[4][5][6]

Clinical significance

Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency.[2][7]

See also


  1. ^ Wu SM, Cheung WF, Frazier D, Stafford DW (December 1991). "Cloning and expression of the cDNA for human gamma-glutamyl carboxylase". Science (journal) 254 (5038): 1634–6. doi:10.1126/science.1749935. PMID 1749935.  
  2. ^ a b "Entrez Gene: GGCX".  
  3. ^ Brenner B, Tavori S, Zivelin A, Keller CB, Suttie JW, Tatarsky I, Seligsohn U (August 1990). "Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants". Br. J. Haematol. 75 (4): 537–42. PMID 2145029.  
  4. ^ Suttie JW (1985). "Vitamin K-dependent carboxylase". Annu. Rev. Biochem. 54: 459–77. doi:10.1146/ PMID 3896125.  
  5. ^ Presnell SR, Stafford DW (2002). "The vitamin K-dependent carboxylase". Thromb. Haemost. 87 (6): 937–46. PMID 12083499.  
  6. ^ Silva PJ, Ramos MJ (2007). "Reaction mechanism of the vitamin K-dependent glutamate carboxylase: a computational study". J Phys Chem B 111 (44): 12883–7. doi:10.1021/jp0738208. PMID 17935315.  
  7. ^ Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A (March 2007). "Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity". J. Invest. Dermatol. 127 (3): 581–7. doi:10.1038/sj.jid.5700610. PMID 17110937.  

Further reading

External links

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



Got something to say? Make a comment.
Your name
Your email address