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Gene Review

CBS  -  cystathionine-beta-synthase

Homo sapiens

Synonyms: Beta-thionase, Cystathionine beta-synthase, HIP4, Serine sulfhydrase
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Disease relevance of CBS


Psychiatry related information on CBS


High impact information on CBS


Chemical compound and disease context of CBS


Biological context of CBS

  • The molecular basis of the organ-specific pathologies associated with CBS deficiency is unknown as is the significance of the reported interaction between CBS and Huntingtin protein [1].
  • We screened genomic DNA of 88 NBD patients, 100 mothers, 88 fathers, and 505 controls for this CBS 31 bp VNTR [2].
  • We have examined four apparently non-functional polymorphisms in the CBS gene and have determined their frequency, degree of linkage disequilibrium and association with plasma homocysteine levels [16].
  • Because of both the high prevalence of the 833T-->C mutation among homozygotes for CBS deficiency and its absence in 60 cardiovascular patients, we may conclude that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease [17].
  • The results of this study with clinically relevant cell line models suggest potential mechanisms for disparate patterns of CBS gene expression in DS and non-DS myeloblasts and may, in part, explain the greater sensitivity to chemotherapy shown by patients with DS AML [18].

Anatomical context of CBS


Associations of CBS with chemical compounds


Physical interactions of CBS


Enzymatic interactions of CBS


Regulatory relationships of CBS


Other interactions of CBS


Analytical, diagnostic and therapeutic context of CBS

  • Heterozygosity for the 833T-->C mutation in the CBS gene was observed in one individual of the control group but was absent in patients with premature cardiovascular disease [17].
  • METHODS: Subjects were genotyped for MTHFR using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and PCR-restriction fragment length polymorphism (PCR-RFLP) techniques, and for CBS using PCR [32].
  • We suggest a simple epidemiologic approach to explore gene-gene interactions, and use it to reevaluate data from a recent case-control study on the possible association of neural tube defects (NTDs) with specific mutations of two genes, 5,10-methylene-tetrahydrofolate reductase (MTHFR) and cystathionine-beta synthase (CBS) [33].
  • Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections [34].
  • The association of MTHFR and CBS variants with the doubling time and responsiveness to several chemodrugs was analyzed in 26 human cancer xenografts [35].


  1. Human Cystathionine beta-Synthase Is a Target for Sumoylation. Kabil, O., Zhou, Y., Banerjee, R. Biochemistry (2006) [Pubmed]
  2. Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects. Afman, L.A., Lievers, K.J., Kluijtmans, L.A., Trijbels, F.J., Blom, H.J. Mol. Genet. Metab. (2003) [Pubmed]
  3. Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Scala, I., Granese, B., Sellitto, M., Salomè, S., Sammartino, A., Pepe, A., Mastroiacovo, P., Sebastio, G., Andria, G. Genet. Med. (2006) [Pubmed]
  4. Huntingtin interacts with cystathionine beta-synthase. Boutell, J.M., Wood, J.D., Harper, P.S., Jones, A.L. Hum. Mol. Genet. (1998) [Pubmed]
  5. Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. Kluijtmans, L.A., Boers, G.H., Verbruggen, B., Trijbels, F.J., Novakova, I.R., Blom, H.J. Blood (1998) [Pubmed]
  6. Cystathionine beta-synthase is enriched in the brains of Down's patients. Ichinohe, A., Kanaumi, T., Takashima, S., Enokido, Y., Nagai, Y., Kimura, H. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  7. Endogenous production of hydrogen sulfide in mammals. Kamoun, P. Amino Acids (2004) [Pubmed]
  8. Spatial and temporal expression of the cystathionine beta-synthase gene during early human development. Quéré, I., Paul, V., Rouillac, C., Janbon, C., London, J., Demaille, J., Kamoun, P., Dufier, J.L., Abitbol, M., Chassé, J.F. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  9. Reduction of false negative results in screening of newborns for homocystinuria. Peterschmitt, M.J., Simmons, J.R., Levy, H.L. N. Engl. J. Med. (1999) [Pubmed]
  10. Hyperhomocysteinemia: an independent risk factor for vascular disease. Clarke, R., Daly, L., Robinson, K., Naughten, E., Cahalane, S., Fowler, B., Graham, I. N. Engl. J. Med. (1991) [Pubmed]
  11. Bateman domains and adenosine derivatives form a binding contract. Kemp, B.E. J. Clin. Invest. (2004) [Pubmed]
  12. Hyperhomocysteinemia and prevalence of polymorphisms of homocysteine metabolism-related enzymes in patients with inflammatory bowel disease. Papa, A., De Stefano, V., Danese, S., Chiusolo, P., Persichilli, S., Casorelli, I., Zappacosta, B., Giardina, B., Gasbarrini, A., Leone, G., Gasbarrini, G. Am. J. Gastroenterol. (2001) [Pubmed]
  13. Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase. Blom, H.J. Eur. J. Pediatr. (2000) [Pubmed]
  14. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. Kluijtmans, L.A., Boers, G.H., Stevens, E.M., Renier, W.O., Kraus, J.P., Trijbels, F.J., van den Heuvel, L.P., Blom, H.J. J. Clin. Invest. (1996) [Pubmed]
  15. S-adenosylmethionine stabilizes cystathionine beta-synthase and modulates redox capacity. Prudova, A., Bauman, Z., Braun, A., Vitvitsky, V., Lu, S.C., Banerjee, R. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  16. Linkage disequilibrium at the cystathionine beta synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine. The Ears II Group. European Atherosclerosis Research Study. De Stefano, V., Dekou, V., Nicaud, V., Chasse, J.F., London, J., Stansbie, D., Humphries, S.E., Gudnason, V. Ann. Hum. Genet. (1998) [Pubmed]
  17. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Kluijtmans, L.A., van den Heuvel, L.P., Boers, G.H., Frosst, P., Stevens, E.M., van Oost, B.A., den Heijer, M., Trijbels, F.J., Rozen, R., Blom, H.J. Am. J. Hum. Genet. (1996) [Pubmed]
  18. Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines. Ge, Y., Jensen, T.L., Matherly, L.H., Taub, J.W. Blood (2003) [Pubmed]
  19. Hydrogen sulfide inhibits nitric oxide production and nuclear factor-kappaB via heme oxygenase-1 expression in RAW264.7 macrophages stimulated with lipopolysaccharide. Oh, G.S., Pae, H.O., Lee, B.S., Kim, B.N., Kim, J.M., Kim, H.R., Jeon, S.B., Jeon, W.K., Chae, H.J., Chung, H.T. Free Radic. Biol. Med. (2006) [Pubmed]
  20. Homocysteine and atheromatous renal artery stenosis. Olivieri, O., Friso, S., Trabetti, E., Girelli, D., Pizzolo, F., Faccini, G., Stranieri, C., Pignatti, P.F., Corrocher, R. Clin. Exp. Med. (2001) [Pubmed]
  21. The effect of glucose and insulin on the activity of methylene tetrahydrofolate reductase and cystathionine-beta-synthase: studies in hepatocytes. Dicker-Brown, A., Fonseca, V.A., Fink, L.M., Kern, P.A. Atherosclerosis (2001) [Pubmed]
  22. Genetic variation of the methylenetetrahydrofolate reductase and cystathionine beta-synthase genes in Korean patients with coronary artery disease and a new polymorphism in intron 7. Hong, S.H., Song, J., Kim, J.Q. Mol. Cell. Probes (2001) [Pubmed]
  23. Hydrogen sulfide is a novel prosecretory neuromodulator in the Guinea-pig and human colon. Schicho, R., Krueger, D., Zeller, F., Von Weyhern, C.W., Frieling, T., Kimura, H., Ishii, I., De Giorgio, R., Campi, B., Schemann, M. Gastroenterology (2006) [Pubmed]
  24. Relative contributions of cystathionine beta-synthase and gamma-cystathionase to H2S biogenesis via alternative trans-sulfuration reactions. Singh, S., Padovani, D., Leslie, R.A., Chiku, T., Banerjee, R. J. Biol. Chem. (2009) [Pubmed]
  25. The quantitatively important relationship between homocysteine metabolism and glutathione synthesis by the transsulfuration pathway and its regulation by redox changes. Mosharov, E., Cranford, M.R., Banerjee, R. Biochemistry (2000) [Pubmed]
  26. Evidence for autocrine growth stimulation of cultured colon tumor cells by a gastrin/cholecystokinin-like peptide. Hoosein, N.M., Kiener, P.A., Curry, R.C., Brattain, M.G. Exp. Cell Res. (1990) [Pubmed]
  27. The presence of a transsulfuration pathway in the lens: a new oxidative stress defense system. Persa, C., Pierce, A., Ma, Z., Kabil, O., Lou, M.F. Exp. Eye Res. (2004) [Pubmed]
  28. Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain. Shin, J.H., Weitzdoerfer, R., Fountoulakis, M., Lubec, G. Neurochem. Int. (2004) [Pubmed]
  29. Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL. Krajinovic, M., Robaey, P., Chiasson, S., Lemieux-Blanchard, E., Rouillard, M., Primeau, M., Bournissen, F.G., Moghrabi, A. Pharmacogenomics (2005) [Pubmed]
  30. Methylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia as a risk factor for coronary heart disease in the Indian population. Nair, K.G., Nair, S.R., Ashavaid, T.F., Dalal, J.J., Eghlim, F.F. The Journal of the Association of Physicians of India. (2002) [Pubmed]
  31. Cystathionine beta synthase as a risk factor for Alzheimer disease. Beyer, K., Lao, J.I., Carrato, C., Rodriguez-Vila, A., Latorre, P., Mataró, M., Llopis, M.A., Mate, J.L., Ariza, A. Current Alzheimer research. (2004) [Pubmed]
  32. A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability. Shannon, B., Gnanasampanthan, S., Beilby, J., Iacopetta, B. Gut (2002) [Pubmed]
  33. Exploring gene-gene interactions in the etiology of neural tube defects. Botto, L.D., Mastroiacovo, P. Clin. Genet. (1998) [Pubmed]
  34. Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections. Konrad, C., Müller, G.A., Langer, C., Kuhlenbäumer, G., Berger, K., Nabavi, D.G., Dziewas, R., Stögbauer, F., Ringelstein, E.B., Junker, R. J. Neurol. (2004) [Pubmed]
  35. Effect of cystathionine beta-synthase variant 844ins68bp and methylenetetrahydrofolate reductase A1298C polymorphisms in xenografts on 5-FU efficacy and doubling time. Sasaki, S., Watanabe, T., Kobunai, T., Nagawa, H. Cancer Lett. (2006) [Pubmed]
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