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gamma glutamyl carboxylase wikipedia jump to content main menu main menu move to sidebar hide navigation main page contents current events random article about wikipedia contact us contribute help learn to edit community portal recent changes upload file special pages search search appearance donate create account log in personal tools donate create account log in contents move to sidebar hide top 1 function 2 catalytic reaction 3 clinical significance 4 see also 5 references 6 further reading 7 external links toggle the table of contents gamma glutamyl carboxylase 4 languages deutsch español 日本語 українська edit links article talk english read edit view history tools tools move to sidebar hide actions read edit view history general what links here related changes upload file permanent link page information cite this page get shortened url switch to legacy parser print export download as pdf printable version in other projects wikidata item appearance move to sidebar hide from wikipedia the free encyclopedia ggcx identifiers aliases ggcx vkcfd1 gamma glutamyl carboxylase gamma glutamyl carboxylase ggcx external ids omim 137167 mgi 1927655 genecards ggcx enzyme activity ec brenda expasy kegg metacyc 4 1 1 90 gene location human chr chromosome 2 human 1 band 2p11 2 start 85 544 720 bp 1 end 85 561 532 bp 1 rna expression pattern bgee human mouse ortholog top expressed in buccal mucosa cell tendon of biceps brachii liver right lobe of liver endothelial cell stromal cell of endometrium internal globus pallidus saphenous vein body of pancreas parotid gland n a more reference expression data biogps more reference expression data gene ontology molecular function gamma glutamyl carboxylase activity lyase activity cellular component integral component of membrane endoplasmic reticulum membrane membrane endoplasmic reticulum biological process peptidyl glutamic acid carboxylation blood coagulation sources amigo quickgo orthologs databases ncbi entry oma entry species human mouse entrez 2677 56316 ensembl ensg00000115486 ensmusg00000053460 uniprot p38435 q9qyc7 refseq mrna nm_000821 nm_001142269 nm_001311312 nm_019802 refseq protein np_000812 np_001135741 np_001298241 np_062776 location ucsc chr 2 85 54 85 56 mb n a pubmed search 2 3 wikidata view edit human view edit mouse enzyme gamma glutamyl carboxylase is an enzyme that in humans is encoded by the ggcx gene located on chromosome 2 at 2p12 4 function edit 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 5 most gla domain containing proteins depend on this carboxylation reaction for posttranslational modification 6 in humans the gamma glutamyl carboxylase enzyme is most highly expressed in the liver catalytic reaction edit gamma glutamyl carboxylase oxidizes vitamin k hydroquinone to vitamin k 2 3 epoxide while simultaneously adding co 2 to protein bound glutamic acid abbreviation glu to form gamma carboxyglutamic acid also called gamma carboxyglutamate abbreviation gla presence of two carboxylate groups causes chelation of ca 2 resulting in change in tertiary structure of protein and its activation 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 7 8 a protein α l glutamate glu phylloquinol kh 2 co 2 oxygen a protein 4 carboxy l glutamate gla vitamin k 2 3 epoxide ko h h 2 o no experimental structure is known for ggcx limiting understanding of its reaction mechanism based on the fact that the two reactions are coupled a computational study is able to propose how the reactants interact with each other to form the products 9 lys228 has been shown to be the residue responsible for starting the reaction 10 how the enzyme holds the reactants in place to have them interact with each other remains poorly shown 491 507 and 395 401 are probably responsible for propeptide and glutamate binding respectively 11 clinical significance edit mutations in this gene are associated with vitamin k dependent coagulation defect and pxe like disorder with multiple coagulation factor deficiency 5 12 see also edit carboxyglutamate references edit 1 2 3 grch38 ensembl release 89 ensg00000115486 ensembl may 2017 human pubmed reference national center for biotechnology information u s national library of medicine mouse pubmed reference national center for biotechnology information u s national library of medicine wu sm cheung wf frazier d stafford dw december 1991 cloning and expression of the cdna for human gamma glutamyl carboxylase science 254 5038 new york n y 1634 1636 bibcode 1991sci 254 1634w doi 10 1126 science 1749935 pmid 1749935 1 2 entrez gene ggcx brenner b tavori s zivelin a keller cb suttie jw tatarsky i et al august 1990 hereditary deficiency of all vitamin k dependent procoagulants and anticoagulants british journal of haematology 75 4 537 542 doi 10 1111 j 1365 2141 1990 tb07795 x pmid 2145029 s2cid 24679257 suttie jw 1985 vitamin k dependent carboxylase annual review of biochemistry 54 1 459 477 doi 10 1146 annurev bi 54 070185 002331 pmid 3896125 presnell sr stafford dw 2002 the vitamin k dependent carboxylase thrombosis and haemostasis 87 6 937 946 doi 10 1055 s 0037 1613115 pmid 12083499 s2cid 27634025 silva pj ramos mj 2007 reaction mechanism of the vitamin k dependent glutamate carboxylase a computational study the journal of physical chemistry b 111 44 12883 12887 doi 10 1021 jp0738208 pmid 17935315 rishavy ma hallgren kw yakubenko av shtofman rl runge kw berkner kl november 2006 brønsted analysis reveals lys218 as the carboxylase active site base that deprotonates vitamin k hydroquinone to initiate vitamin k dependent protein carboxylation biochemistry 45 44 13239 13248 doi 10 1021 bi0609523 pmid 17073445 parker ch morgan cr rand kd engen jr jorgenson jw stafford dw march 2014 a conformational investigation of propeptide binding to the integral membrane protein γ glutamyl carboxylase using nanodisc hydrogen exchange mass spectrometry biochemistry 53 9 1511 1520 doi 10 1021 bi401536m pmc 3970815 pmid 24512177 vanakker om martin l gheduzzi d leroy bp loeys bl guerci vi et al march 2007 pseudoxanthoma elasticum like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity the journal of investigative dermatology 127 3 581 587 doi 10 1038 sj jid 5700610 hdl 11380 23189 pmid 17110937 further reading edit bandyopadhyay pk 2008 vitamin k dependent gamma glutamylcarboxylation an ancient posttranslational modification vitamins and hormones vitamins hormones 78 157 184 doi 10 1016 s0083 6729 07 00008 8 isbn 9780123741134 pmid 18374194 cite journal cs1 maint periodical has isbn link berkner kl 2008 vitamin k dependent carboxylation vitamins and hormones vitamins hormones 78 131 156 doi 10 1016 s0083 6729 07 00007 6 isbn 9780123741134 pmid 18374193 cite journal cs1 maint periodical has isbn link oldenburg j marinova m müller reible c watzka m 2008 the vitamin k cycle vitamins and hormones vitamins hormones 78 35 62 doi 10 1016 s0083 6729 07 00003 9 isbn 9780123741134 pmid 18374189 cite journal cs1 maint periodical has isbn link berkner kl 2005 the vitamin k dependent carboxylase annual review of nutrition 25 1 127 149 doi 10 1146 annurev nutr 25 050304 092713 pmid 16011462 zhang b ginsburg d september 2004 familial multiple coagulation factor deficiencies new biologic insight from rare genetic bleeding disorders journal of thrombosis and haemostasis 2 9 1564 1572 doi 10 1111 j 1538 7836 2004 00857 x hdl 2027 42 74529 pmid 15333032 s2cid 7437035 wallin r hutson sm july 2004 warfarin and the vitamin k dependent gamma carboxylation system trends in molecular medicine 10 7 299 302 doi 10 1016 j molmed 2004 05 003 pmid 15242675 berkner kl august 2000 the vitamin k dependent carboxylase the journal of nutrition 130 8 1877 1880 doi 10 1093 jn 130 8 1877 pmid 10917896 bender david a 2003 nutritional biochemistry of the vitamins cambridge uk cambridge university press isbn 0 521 80388 8 ball george e 2004 vitamins their role in the human body oxford blackwell science isbn 0 632 06478 1 combs gerald f 1998 the vitamins fundamental aspects in nutrition and health boston academic press isbn 0 12 183492 1 external links edit glutamyl carboxylase at the u s 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 v t e ligases carbon carbon ligases ec 6 4 biotin dependent carboxylation pyruvate carboxylase acetyl coa carboxylase propionyl coa carboxylase methylcrotonyl coa carboxylase other polyketide synthase v t e enzymes activity active site binding site catalytic triad oxyanion hole enzyme promiscuity diffusion limited enzyme cofactor enzyme catalysis regulation allosteric regulation cooperativity enzyme inhibitor enzyme activator classification ec number enzyme superfamily enzyme family list of enzymes kinetics enzyme kinetics eadie hofstee diagram hanes woolf plot lineweaver burk plot michaelis menten kinetics types ec1 oxidoreductases list ec2 transferases list ec3 hydrolases list ec4 lyases list ec5 isomerases list ec6 ligases list ec7 translocases list portal biology retrieved from https en wikipedia org w index php title gamma glutamyl_carboxylase oldid 1366947134 categories genes on human chromosome 2 ec 6 4 hidden categories articles with short description short description is different from wikidata cs1 maint periodical has isbn wikipedia articles incorporating text from the united states national library of medicine this page was last edited on 31 july 2026 at 00 53 utc page was rendered with parsoid text is available under the creative commons attribution sharealike 4 0 license additional terms may apply by using this site you agree to the terms of use and privacy policy wikipedia is a registered trademark of the wikimedia foundation inc a non profit organization privacy policy about wikipedia disclaimers contact wikipedia legal safety contacts code of conduct developers statistics cookie statement mobile view search search toggle the table of contents gamma glutamyl carboxylase 4 languages add topic