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Cystathionine Beta Synthase (CbS)

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HIP4; Beta-thionase; Serine sulfhydrase

Cystathionine Beta Synthase (CbS)
CCC J484
HGNC 1550
MGI 88285
PubMed 15890029
RGD 2287
UniProt P35520
Wiki CBS
Cystathionine Beta Synthase 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. Multiple alternatively spliced transcript variants have been found for this gene.The deduced 551-residue protein showed about 90% identity with the rat protein. Northern blot analysis identified a major 2.7-kb mRNA transcript.The gene is expressed as a 2.5-kb mRNA species mostly in liver and pancreas, with faint expression in brain, heart, kidney and lung. In addition, a 3.7-kb transcript was found in pancreas and liver.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cystathionine Beta Synthase (CbS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cystathionine Beta Synthase (CbS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cystathionine Beta Synthase (CbS) Polyclonal Antibody Customized Service Offer
Assay Kits SEJ484Hu ELISA Kit for Cystathionine Beta Synthase (CbS) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPJ484Mu01 Recombinant Cystathionine Beta Synthase (CbS) Positive Control; Immunogen; SDS-PAGE; WB.
RPJ484Mu02 Recombinant Cystathionine Beta Synthase (CbS) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAJ484Mu01 Polyclonal Antibody to Cystathionine Beta Synthase (CbS) WB; IHC; ICC; IP.
PAJ484Mu02 Polyclonal Antibody to Cystathionine Beta Synthase (CbS) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Cystathionine Beta Synthase (CbS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cystathionine Beta Synthase (CbS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cystathionine Beta Synthase (CbS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cystathionine Beta Synthase (CbS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cystathionine Beta Synthase (CbS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cystathionine Beta Synthase (CbS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cystathionine Beta Synthase (CbS) ELISA Kit Customized Service Offer
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  2. "Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs."Biochem. Biophys. Res. Commun. 211:826-832(1995) [PubMed] [Europe PMC] [Abstract]
  3. "A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes."Proc. Natl. Acad. Sci. U.S.A. 91:6614-6618(1994) [PubMed] [Europe PMC] [Abstract]
  4. "Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing."Mamm. Genome 8:917-921(1997) [PubMed] [Europe PMC] [Abstract]
  5. "The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms."Genomics 52:312-324(1998) [PubMed] [Europe PMC] [Abstract]
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits."J. Biol. Chem. 253:6523-6528(1978) [PubMed] [Europe PMC] [Abstract]
  9. "Human cystathionine beta-synthase is a target for sumoylation."Biochemistry 45:13528-13536(2006) [PubMed] [Europe PMC] [Abstract]
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  13. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  14. "Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein."EMBO J. 20:3910-3916(2001) [PubMed] [Europe PMC] [Abstract]
  15. "Human cystathionine beta-synthase is a heme sensor protein. Evidence that the redox sensor is heme and not the vicinal cysteines in the CXXC motif seen in the crystal structure of the truncated enzyme."Biochemistry 41:10454-10461(2002) [PubMed] [Europe PMC] [Abstract]
  16. "Cystathionine beta-synthase mutations in homocystinuria."Hum. Mutat. 13:362-375(1999) [PubMed] [Europe PMC] [Abstract]
  17. "Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency."Hum. Mutat. 1:113-123(1992) [PubMed] [Europe PMC] [Abstract]
  18. "Molecular defect in a patient with pyridoxine-responsive homocystinuria."Hum. Mol. Genet. 2:815-816(1993) [PubMed] [Europe PMC] [Abstract]
  19. "Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria."Hum. Mol. Genet. 2:1857-1860(1993) [PubMed] [Europe PMC] [Abstract]
  20. "Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system."Hum. Mol. Genet. 3:1103-1108(1994) [PubMed] [Europe PMC] [Abstract]
  21. "Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria."Hum. Mol. Genet. 3:1883-1886(1994) [PubMed] [Europe PMC] [Abstract]
  22. "Komrower Lecture. Molecular basis of phenotype expression in homocystinuria."J. Inherit. Metab. Dis. 17:383-390(1994) [PubMed] [Europe PMC] [Abstract]
  23. "A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype."Am. J. Hum. Genet. 57:34-39(1995) [PubMed] [Europe PMC] [Abstract]
  24. "The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations."Am. J. Hum. Genet. 56:1324-1333(1995) [PubMed] [Europe PMC] [Abstract]
  25. "Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients."Hum. Genet. 96:249-250(1995) [PubMed] [Europe PMC] [Abstract]
  26. "A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene."Hum. Mol. Genet. 4:1155-1161(1995) [PubMed] [Europe PMC] [Abstract]
  27. "Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11."J. Inherit. Metab. Dis. 18:211-214(1995) [PubMed] [Europe PMC] [Abstract]
  28. "Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient."J. Clin. Invest. 98:285-289(1996) [PubMed] [Europe PMC] [Abstract]
  29. "Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations."J. Inherit. Metab. Dis. 19:351-356(1996) [PubMed] [Europe PMC] [Abstract]
  30. "Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria."Eur. J. Hum. Genet. 5:15-21(1997) [PubMed] [Europe PMC] [Abstract]
  31. "Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria."Hum. Mol. Genet. 6:2213-2221(1997) [PubMed] [Europe PMC] [Abstract]
  32. "Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients."Hum. Mutat. 9:81-82(1997) [PubMed] [Europe PMC] [Abstract]
  33. "Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99."J. Inherit. Metab. Dis. 20:363-366(1997) [PubMed] [Europe PMC] [Abstract]
  34. "Two novel mutations in the cystathionine beta-synthase gene of homocystinuric patients."Mol. Diagn. 2:129-133(1997) [PubMed] [Europe PMC] [Abstract]
  35. "Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria."Hum. Mutat. 11:332-332(1998) [PubMed] [Europe PMC] [Abstract]
  36. "Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria."Mol. Genet. Metab. 65:298-302(1998) [PubMed] [Europe PMC] [Abstract]
  37. "Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype."Hum. Mutat. 13:453-457(1999) [PubMed] [Europe PMC] [Abstract]
  38. "Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis."Hum. Mutat. 16:372-372(2000) [PubMed] [Europe PMC] [Abstract]
  39. "Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria."Am. J. Hum. Genet. 68:1506-1513(2001) [PubMed] [Europe PMC] [Abstract]
  40. "Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations."Clin. Genet. 60:161-163(2001) [PubMed] [Europe PMC] [Abstract]
  41. "High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations."Hum. Mutat. 19:641-655(2002) [PubMed] [Europe PMC] [Abstract]
  42. "The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment."Hum. Mutat. 20:117-126(2002) [PubMed] [Europe PMC] [Abstract]
  43. "Spectrum of CBS mutations in 16 homocystinuric patients from the iberian peninsula: high prevalence of T191M and absence of I278T or G307S."Hum. Mutat. 22:103-103(2003) [PubMed] [Europe PMC] [Abstract]
  44. "Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype."Hum. Mutat. 22:434-441(2003) [PubMed] [Europe PMC] [Abstract]
  45. "Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria."Hum. Mutat. 23:631-631(2004) [PubMed] [Europe PMC] [Abstract]
  46. "The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: vitamin B6 nonresponsiveness and a common ancestral haplotype."Hum. Mutat. 24:352-353(2004) [PubMed] [Europe PMC] [Abstract]
  47. "Molecular analysis of homocystinuria in Brazilian patients."Clin. Chim. Acta 362:71-78(2005) [PubMed] [Europe PMC] [Abstract]
  48. "Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria."J. Hum. Genet. 50:648-654(2005) [PubMed] [Europe PMC] [Abstract]
  49. "Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations."Hum. Mutat. 27:211-211(2006) [PubMed] [Europe PMC] [Abstract]
  50. "Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients."Hum. Mutat. 32:835-842(2011) [PubMed] [Europe PMC] [Abstract]
  51. "CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient."Pathology 43:81-83(2011) [PubMed] [Europe PMC] [Abstract]