Gamma-glutamyl carboxylase
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| 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 | ||||||||||||
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| 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 |
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| 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.[1]
Contents
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.[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 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
References
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Further reading
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External links
- glutamyl carboxylase at the US National Library of Medicine Medical Subject Headings (MeSH)
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
