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Validated All-in-One™ qPCR Primer for CBS(NM_001178009.3) Search again
Product ID:
HQP150992
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CBSL, HIP4
Gene Description:
cystathionine beta-synthase
Target Gene Accession:
NM_001178009.3(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.
Summary
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. [provided by RefSeq].
Gene References into function
- Selective biochemical screening may ascertain only approximately 25% of all homocystinuric patients.
- A novel class of missense mutations in homocystinurics is described, located in the non-catalytic C-terminal region of CBS yielding enzymes that are catalytically active but deficient in their response to S-adenosylmethionine (AdoMet).
- Proteins with seven novel and 20 known mutations detected in cystathionine beta-synthase (CBS) deficiency completely lack CBS catalytic activity.
- Deletion of the heme-binding domain but not mutagenesis of the cysteines in the CXXC oxidoreductase motif of cystathionine beta-synthase is correlated with loss of redox sensitivity of its catalytic activity.
- Human CBS has a frequent polymorphism- a duplication has generated a gene re-arrangement at the 3' splice site where two GGGG runs have been brought close to each other
- The activation domain mutation D444N reduces the steady-state levels of cystathionine beta-synthase 4-fold and drastically increases the activation response to AdoMet (by ~100-fold) so that it can no longer be activated at physiological concentrations.
- investigation of functional organization of the catalytic and regulatory regions of this enzyme
- results of this study with clinically relevant cell line models suggest potential mechanisms for disparate patterns of cystathionine beta synthase gene expression in Down syndrome and non-down syndrome megakaryocytic leukemia
- confirms the important transactivating role of NF-YA isofoms for the 1b promoter via synergism with Sp1
- we did not find any indication that genetic variation in the CBS gene is associated with increased homocysteine concentrations.
- number of 31 bp repeat elements in the CBS gene influences homocysteine levels
- Five novel mutations causing amino acid substitutions have been identified in the CBS gene in 16 homocystinuric patients from Spain and Portugal.
- study showed that the c.844ins68 variant in CBS gene decreases the risk of clinically manifested coronary artery disease
- Sp1 has a critical and indispensable role in tissue-specific regulation of cystathionine beta-synthase
- Mutation in cystathionine beta-synthase is not obviously correlated with stroke and is not associated with categories of stroke.
- The expression of cystathionine beta-synthase was investigated by quantitative analysis in fetal Down syndrome (DS) brain. Levels were comparable between DS and control brain.
- 4 new CBS mutations c.451G>A (p.Gly151?), c.740_769del (p.Lys247_Gly256del), c.862G>C (p.Ala288Pro) and c.1135C>T (p.Arg379Trp)were found. The CBS c.1224-2A>C allele confers vitamin B6 nonresponsiveness.
- results confirm the ability of CBS to produce H2S, but show in contrast to prior reports that the major mechanism is via beta-replacement and not cysteine hydrolysis
- The heme of cystathionine beta-synthase regulates activity through changes in redox state, because the heme prefers to be in the ferric state at physiological pH.
- CBS, MTHFR, and SLC19a1 are involved in metabolism of folate and lung cancer risk in China
- Our results show that elevated tHcy per se is not responsible for the neonatal lethality observed in Cbs-/- animals and suggests that CBS protein may have a function in addition to its role in homocysteine catabolism
- 844ins68 mutation and VNTR allele 19 are independent risk factors for Alzheimer disease development in subjects aged 75 years or more.
- Mutation analysis of the CBS gene in Korean patients with homocystinuria was performed. Eight mutations were identified, including four known mutations (T257M, R336C, T353M, and G347S) and four novel mutations (L154Q, A155V, del234D, and A288T).
- over-expression of CBS may cause the developmental abnormality in cognition in Down's syndrome
- Functional studies of CBS provide strong evidence that coordination of Cys52 to the heme iron is crucial for full activity in this enzyme.
- analysis of CBS p.T191M mutation in homocystinuric patients from Colombia
- A mutation of the CBS gene is highly prevalent among homocytinuric patients from Spain, Portugal, and Colombia.
- The mechanism of the inhibitory effect of carbon monoxide on CBS is reported.
- production of several lines of transgenic mice expressing the human CBS gene to produce an animal disease model of Down syndrome.
- cystathionine beta-synthase may have a role in kidney function
- 31 bp VNTR in CBS is genetic determinant of post-methionine load tHcy concentrations. Since post-methionine load tHcy concentrations are found to be associated with increased risk for cardiovascular disease, this 31 bp VNTR may be risk factor for CVD.
- The cystathionine beta-synthase variant (insertion allele of CBS c.844_845ins68) protects against CNS demyelination in X-linked adrenoleukodystrophy.
- C431 is directly involved in AdoMet binding
- Mutation within the CBS gene is associated with the development of congenital heart disease.
- plasma Hcy-thiolactone is elevated 59-fold and 72-fold in human patients with hyperhomocysteinemia secondary to mutations in methylenetetrahydrofolate reductase and cystathionine beta-synthase genes, respectively
- this is the first example of mutations in the catalytic core of cystathionine beta-synthase that result in failure of S-adenosylmethionine-dependent regulation.
- Chemical chaperones present during the initial folding process may facilitate proper folding of several mutant CBS proteins and suggest it may be possible to treat some inborn errors of metabolism with agents that enhance proper protein folding.
- These results not only highlight the involvement of the MSR and CBS genes in the etiology of cardiovascular disease, but also emphasize the strength of haplotype analyses in association studies.
- Base pair variable numbeer tandem repeaets does not contribute to the etiology of mental reteardation.
- CBS gene mutation carriers are associated with homocystinuria
- no association between and the cystathionine beta-synthase (844ins68) insertion polymorphism and cancer of the upper gastrointestinal tract.
- Fe(II) CBS spontaneously loses enzyme activity over the course of a 20 min enzyme assay. Both the full-length 63-kDa and truncated 45-kDa form of CBS slowly and irreversibly lose activity upon reduction to the Fe(II) form.
- Finally, we show that CBS is stimulated by S-adenosyl- l-methionine but not its analogs.
- Study assessed the redox behavior of CBS and showed that Fe(II)CBS reacted with dioxygen yielding Fe(III)CBS without detectable formation of an intermediate species, and that Heme oxidation led to superoxide radical generation.
- CBS 844ins68 allele may ameliorate the excess risk associated with a high homocysteine and low folate phenotype to which MTHFR 677TT homozygotes would otherwise be predisposed
- The results of this study suggest that genetic variants of methionine metabolism are associated with meningioma formation
- Using transgenic mice, results show that p.S466L causes homocystinuria by affecting both the steady state level of CBS protein and by reducing the efficiency of the enzyme in vivo.
- This study describes the effect of polymorphism on cystathionine-beta-synthase in homocysteine metabolism, on plasma homocysteine level and on coronary artery-disease risk.
- plasma N-Hcy-protein levels are significantly elevated in CBS- and MTHFR-deficient patients. We also show that CBS-deficient patients have significantly elevated plasma levels of prothrombotic N-Hcy-fibrinogen.
- study evaluated the importance of the polymorphisms in the MTHFR, MTRR, and CBS genes for hyperhomocysteinemia, considering B12 and folate levels; results confirm that genetic interactions can influence on the homocysteine status