Cystathionine-beta-synthase

Cystathionine-beta-synthase
PDB rendering based on 1jbq.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1jbq​, 1m54​
Identifiers
Symbols	CBS ; HIP4
External IDs	Template:OMIM5 Template:MGI HomoloGene: 37258
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Cystathionine-beta-synthase, also known as CBS, is a human gene.

The protein encoded by this gene is involved in the transsulfuration pathway. The first step of this pathway, from homocysteine to cystathionine, is catalyzed by this protein. CBS deficiency can cause homocystinuria which affects many organs and tissues, including the eyes and the skeletal, vascular and central nervous systems.

Further reading

• Kraus JP (1994). "Komrower Lecture. Molecular basis of phenotype expression in homocystinuria". J. Inherit. Metab. Dis. 17 (4): 383–90. PMID 7967489.
• Kraus JP, Janosík M, Kozich V; et al. (1999). "Cystathionine beta-synthase mutations in homocystinuria". Hum. Mutat. 13 (5): 362–75. doi:10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. PMID 10338090.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jones AL (1999). "The localization and interactions of huntingtin". Philos. Trans. R. Soc. Lond., B, Biol. Sci. 354 (1386): 1021–7. doi:10.1098/rstb.1999.0454. PMID 10434301.
• Griffiths R, Tudball N (1977). "The molecular defect in a case of (cystathionine beta-synthase)-deficient homocystinuria". Eur. J. Biochem. 74 (2): 269–73. PMID 404147.
• Kraus J, Packman S, Fowler B, Rosenberg LE (1978). "Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits". J. Biol. Chem. 253 (18): 6523–8. PMID 681363.CS1 maint: Multiple names: authors list (link)
• Longhi RC, Fleisher LD, Tallan HH, Gaull GE (1977). "Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy". Pediatr. Res. 11 (2): 100–3. PMID 840498.CS1 maint: Multiple names: authors list (link)
• Kozich V, Kraus JP (1993). "Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency". Hum. Mutat. 1 (2): 113–23. doi:10.1002/humu.1380010206. PMID 1301198.
• Münke M, Kraus JP, Ohura T, Francke U (1988). "The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17". Am. J. Hum. Genet. 42 (4): 550–9. PMID 2894761.CS1 maint: Multiple names: authors list (link)
• Hu FL, Gu Z, Kozich V; et al. (1994). "Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria". Hum. Mol. Genet. 2 (11): 1857–60. PMID 7506602.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sperandeo MP, Panico M, Pepe A; et al. (1995). "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 (2): 211–4. PMID 7564249.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chassé JF, Paly E, Paris D; et al. (1995). "Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs". Biochem. Biophys. Res. Commun. 211 (3): 826–32. doi:10.1006/bbrc.1995.1886. PMID 7598711.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shih VE, Fringer JM, Mandell R; et al. (1995). "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 (1): 34–9. PMID 7611293.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kluijtmans LA, Blom HJ, Boers GH; et al. (1995). "Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients". Hum. Genet. 96 (2): 249–50. PMID 7635485.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sebastio G, Sperandeo MP, Panico M; et al. (1995). "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 (6): 1324–33. PMID 7762555.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marble M, Geraghty MT, de Franchis R; et al. (1995). "Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria". Hum. Mol. Genet. 3 (10): 1883–6. PMID 7849717.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kraus JP, Le K, Swaroop M; et al. (1994). "Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells". Hum. Mol. Genet. 2 (10): 1633–8. PMID 7903580.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• de Franchis R, Kozich V, McInnes RR, Kraus JP (1995). "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 (7): 1103–8. PMID 7981678.CS1 maint: Multiple names: authors list (link)
• Kruger WD, Cox DR (1994). "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 (14): 6614–8. PMID 8022826.
• Kozich V, de Franchis R, Kraus JP (1993). "Molecular defect in a patient with pyridoxine-responsive homocystinuria". Hum. Mol. Genet. 2 (6): 815–6. PMID 8353501.CS1 maint: Multiple names: authors list (link)