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Validated All-in-One™ qPCR Primer for GGCX(NM_000821.6) Search again
Product ID:
HQP007377
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
VKCFD1
Gene Description:
gamma-glutamyl carboxylase
Target Gene Accession:
NM_000821.6(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis.
Gene References into function
- 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.
- characterization of vitamin K-dependent gamma-glutamyl carboxylase internal propeptide
- Cys-99 and Cys-450 form the only disulfide bond in carboxylase
- mutations in residues between 393 and 404 in gamma-glutamyl carboxylase cause impaired glutamate binding
- 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.
- binding of the factor IX gamma-carboxyglutamic acid domain to the vitamin K-dependent gamma-glutamyl carboxylase active site has a role in carboxylation and regulation of release of carboxylated product
- 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
- 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.
- GGCX SNP showed a small but significant effect on warfarin dose.
- Crystallization of human GGCX.
- report demonstrates the different activities of GGCX between the common genotypes and their association with bone mineral density
- 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.
- Mass spectrometric results show that the N-linked glycosylation in carboxylase occurs at positions N459, N550, N605, and N627.
- identified 37 SNPs in GGCX. The GGCX-12970 SNP had a small, but significant effect, on warfarin maintenance dose
- There is no significant association between the polymorphisms in GGCX and the warfarin dose requirement.
- GGCX R325Q genotype did not provide significant differences in acenocoumarol dose requirements in patients
- 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.
- analysis of GGCX and ABCC6 mutations in a family with pseudoxanthoma elasticum-like phenotypes [case report]
- Our findings also confirm GGCX as the second gene locus causing Pseudoxanthoma elasticum