Your Good Partner in Biology Research

  1. 首页
  2. 蛋白
  3. 跨膜蛋白
  4. Recombinant Human Vitamin K-dependent gamma-carboxylase (GGCX)

Recombinant Human Vitamin K-dependent gamma-carboxylase (GGCX)

  • 货号：
    CSB-CF009388HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
  • Uniprot No.：
  • 别名：
    GGCX; GC; Vitamin K-dependent gamma-carboxylase; Gamma-glutamyl carboxylase; Peptidyl-glutamate 4-carboxylase; Vitamin K gamma glutamyl carboxylase
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    2-758
  • 氨基酸序列
    AVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTDPASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQRIFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYMYVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.
  • 基因功能参考文献：
    1. The risk for ischemic atherothrombotic stroke in patients with the gamma-glutamyl carboxylase T/T genotype was higher than in major C-allele carriers. PMID: 29975826
    2. unlike the traditional in vitro GGCX activity assay, allows us to assess the functionality of GGCX using its natural protein substrates in a cellular milieu PMID: 27394683
    3. 2 causative GGCX mutations ( c.1889-6G>A and c.1657delA) from the first reported clinical case of a VKCFD patient. The intronic mutation c.1889-6G>A affects GGCX splicing. Functional characterization of these 2 mutations suggests that truncation of GGCX from its C-terminus affects not only substrate binding but also protein stability. PMID: 28679738
    4. impact of CYP4F2, ABCB1, and GGCX polymorphisms on bleeding episodes associated with acenocoumarol in Russian patients with atrial fibrillation PMID: 27662649
    5. this systematic review suggests that there indeed may be genotype-phenotype correlations for GGCX-related phenotypes, which can guide patient counseling and management. PMID: 28125048
    6. GGCX c.2084+45G polymorphisms has a moderate effect on VKAs dose requirements in Slavic population from Central-Eastern Europe. PMID: 25042728
    7. Detected are ten mutations in the gamma-glutamyl carboxylase gene in patients with hereditary deficiency of vitamin K-dependent coagulation factors. PMID: 25151188
    8. The allele frequency for GGCX 12970 C > G is 1.43 in north Indians and did not have a significant bearing on the maintenance dose of acenocoumarol oral anticoagulant in cardiac valve replacement patients. PMID: 24927344
    9. GGCX mutation found in families with pseudoxanthoma elasticum with retinitis pigmentosa and cutis laxa. PMID: 24739904
    10. These findings indicate that individuals carrying the CYP2C19 rs3814637CC or CYP2C9 rs1057910AA or GGCX rs699664AA genotype needed higher warfarin doses in the Chinese population. PMID: 23941071
    11. In atrial fibrillation population in Xinjiang, patients with CT and TT genotypes in the gamma-glutamyl carboxylase gene rs259251 loci required significantly higher warfarin dose than those with CC genotype. PMID: 24148610
    12. evaluation of urinary Gla excretion in relation with apo E genotype PMID: 23817635
    13. study demonstrated the effects of SNP (974G>A) in the GGCX gene on the correlation between dietary vitamin K intake and gamma-carboxylation of serum osteocalcin PMID: 24231026
    14. there may be no significant association between the low activity and mutation of GGCX in calcium oxalate urolithiasis PMID: 19821094
    15. Quantitative PCR assays for VKORC1, CYP4F2, GGCX and CALU identified two copies in all populations. PMID: 22188360
    16. GGCX polymorphism appeared to have an influence over the reduction of undercarboxylated osteocalcin, especially in older women (age >/=65). PMID: 21344298
    17. no association between haplotypes and venous thrombosis PMID: 21800014
    18. no effects of genetic variants on maintenance warfarin dose in a multi-ethnic Asian population PMID: 21475774
    19. Molecular analysis of the gamma-glutamylcarboxylase gene revealed a heterozygous single nucleotide polymorphism, which decreases carboxylase activity and induces VK-dependent coagulation deficiency. PMID: 21704322
    20. genetic polymorphism affects therapeutic dose of warfarin PMID: 20694283
    21. The activity and expression of GGCX are decreased in renal tissues of patients with calcium oxolate urolithiasis. PMID: 20332604
    22. Subtle polymorphisms, including those in GGCX, NQO1, and VKORC1 genes, influence individual susceptibility to the development of atherosclerotic stroke. PMID: 20193673
    23. Effect of vitamin K-dependent protein precursor propeptide, vitamin K hydroquinone, and glutamate substrate binding on the structure and function of {gamma}-glutamyl carboxylase. PMID: 20716530
    24. Gene polymorphisms of VKORC1 significantly associated with the variation of interindividual warfarin dose requirement variation, and the effects are different in ethnicities. PMID: 19942260
    25. characterization of vitamin K-dependent gamma-glutamyl carboxylase internal propeptide PMID: 12034728
    26. Cys-99 and Cys-450 form the only disulfide bond in carboxylase PMID: 12963724
    27. mutations in residues between 393 and 404 in gamma-glutamyl carboxylase cause impaired glutamate binding PMID: 12968027
    28. A 14-base deletion was found in intron 1 (bases 1056-1069) of the gamma-carboxylase gene. It destroys a reverse palindromic sequence (TTGAGGCAA) of the type often associated with cis-acting elements. This element may regulation the enzyme's expression. PMID: 14567538
    29. GGCX SNP showed a small but significant effect on warfarin dose. PMID: 15883587
    30. Crystallization of human GGCX. PMID: 16979907
    31. report demonstrates the different activities of GGCX between the common genotypes and their association with bone mineral density PMID: 17029979
    32. In addition to polymorphisms in VKORC1 and CYP2C9, we identified GGCX 8016G>A, resulting in the missense mutation R325Q, as a genetic determinant of warfarin maintenance dose in Japanese patients. PMID: 17049586
    33. Mass spectrometric results show that the N-linked glycosylation in carboxylase occurs at positions N459, N550, N605, and N627. PMID: 17144668
    34. identified 37 SNPs in GGCX. The GGCX-12970 SNP had a small, but significant effect, on warfarin maintenance dose PMID: 17764537
    35. There is no significant association between the polymorphisms in GGCX and the warfarin dose requirement. PMID: 17786385
    36. GGCX R325Q genotype did not provide significant differences in acenocoumarol dose requirements in patients PMID: 18234294
    37. A homology model of gamma-glutamyl carboxylase transmembrane domains 2 and 5 suggests that not only do these two domains associate but that transmembrane domain 2 may interact with another transmembrane domain. PMID: 18498174
    38. analysis of GGCX and ABCC6 mutations in a family with pseudoxanthoma elasticum-like phenotypes [case report] PMID: 18800149
    39. Our findings also confirm GGCX as the second gene locus causing Pseudoxanthoma elasticum PMID: 19116367
    40. heterozygous carriers of GGCX rs10187424 and rs7568458 had significantly lower percent undercarboxylated osteocalcin relative to either homozygous group. PMID: 19436136
    41. Polymorphisms in VKORC1 and GGCX are not major genetic determinants of vitamin K-dependent coagulation factor activity in Western Germans. PMID: 19652895
    42. Cys-99 and Cys-450 are free sulfhydryls in the gamma-glutamyl carboxylase active site. The free sulfhydryls were mapped by isolating a native carboxylase-factor IX enzyme substrate complex, modification with NEM and mass spectral mapping. PMID: 11087858
    43. An activated amine initiates the vitamin K-dependent carboxylation reaction, while the Cys-99 and Cys-450 free sulfhydryls play other important roles in the carboxylase reaction PMID: 15365175
    44. Quantitative radiolabeled N-ethylmaleimide modification of a carboxylase with all Cys residues changed to Ala supports the identification of Cys-99 and Cys-450 as the free sulfhydryls in the active site. PMID: 15365175

    显示更多

    收起更多

  • 相关疾病：
    Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1); Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Vitamin K-dependent gamma-carboxylase family
  • 数据库链接：

    HGNC: 4247

    OMIM: 137167

    KEGG: hsa:2677

    STRING: 9606.ENSP00000233838

    UniGene: Hs.77719