Cystathionine-beta-synthase

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

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summary_text = 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. [cite web | title = Entrez Gene: CBS cystathionine-beta-synthase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=875| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Kraus JP |title=Komrower Lecture. Molecular basis of phenotype expression in homocystinuria. |journal=J. Inherit. Metab. Dis. |volume=17 |issue= 4 |pages= 383–90 |year= 1994 |pmid= 7967489 |doi=
*cite journal | author=Kraus JP, Janosík M, Kozich V, "et al." |title=Cystathionine beta-synthase mutations in homocystinuria. |journal=Hum. Mutat. |volume=13 |issue= 5 |pages= 362–75 |year= 1999 |pmid= 10338090 |doi= 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K |doilabel=10.1002/(SICI)1098-1004(1999)13:5362::AID-HUMU43.0.CO;2-K
*cite journal | author=Jones AL |title=The localization and interactions of huntingtin. |journal=Philos. Trans. R. Soc. Lond., B, Biol. Sci. |volume=354 |issue= 1386 |pages= 1021–7 |year= 1999 |pmid= 10434301 |doi= 10.1098/rstb.1999.0454
*cite journal | author=Griffiths R, Tudball N |title=The molecular defect in a case of (cystathionine beta-synthase)-deficient homocystinuria. |journal=Eur. J. Biochem. |volume=74 |issue= 2 |pages= 269–73 |year= 1977 |pmid= 404147 |doi=
*cite journal | author=Kraus J, Packman S, Fowler B, Rosenberg LE |title=Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits. |journal=J. Biol. Chem. |volume=253 |issue= 18 |pages= 6523–8 |year= 1978 |pmid= 681363 |doi=
*cite journal | author=Longhi RC, Fleisher LD, Tallan HH, Gaull GE |title=Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy. |journal=Pediatr. Res. |volume=11 |issue= 2 |pages= 100–3 |year= 1977 |pmid= 840498 |doi=
*cite journal | author=Kozich V, Kraus JP |title=Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. |journal=Hum. Mutat. |volume=1 |issue= 2 |pages= 113–23 |year= 1993 |pmid= 1301198 |doi= 10.1002/humu.1380010206
*cite journal | author=Münke M, Kraus JP, Ohura T, Francke U |title=The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. |journal=Am. J. Hum. Genet. |volume=42 |issue= 4 |pages= 550–9 |year= 1988 |pmid= 2894761 |doi=
*cite journal | author=Hu FL, Gu Z, Kozich V, "et al." |title=Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. |journal=Hum. Mol. Genet. |volume=2 |issue= 11 |pages= 1857–60 |year= 1994 |pmid= 7506602 |doi=
*cite journal | author=Sperandeo MP, Panico M, Pepe A, "et al." |title=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. |journal=J. Inherit. Metab. Dis. |volume=18 |issue= 2 |pages= 211–4 |year= 1995 |pmid= 7564249 |doi=
*cite journal | author=Chassé JF, Paly E, Paris D, "et al." |title=Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs. |journal=Biochem. Biophys. Res. Commun. |volume=211 |issue= 3 |pages= 826–32 |year= 1995 |pmid= 7598711 |doi= 10.1006/bbrc.1995.1886
*cite journal | author=Shih VE, Fringer JM, Mandell R, "et al." |title=A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. |journal=Am. J. Hum. Genet. |volume=57 |issue= 1 |pages= 34–9 |year= 1995 |pmid= 7611293 |doi=
*cite journal | author=Kluijtmans LA, Blom HJ, Boers GH, "et al." |title=Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients. |journal=Hum. Genet. |volume=96 |issue= 2 |pages= 249–50 |year= 1995 |pmid= 7635485 |doi=
*cite journal | author=Sebastio G, Sperandeo MP, Panico M, "et al." |title=The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. |journal=Am. J. Hum. Genet. |volume=56 |issue= 6 |pages= 1324–33 |year= 1995 |pmid= 7762555 |doi=
*cite journal | author=Marble M, Geraghty MT, de Franchis R, "et al." |title=Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. |journal=Hum. Mol. Genet. |volume=3 |issue= 10 |pages= 1883–6 |year= 1995 |pmid= 7849717 |doi=
*cite journal | author=Kraus JP, Le K, Swaroop M, "et al." |title=Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells. |journal=Hum. Mol. Genet. |volume=2 |issue= 10 |pages= 1633–8 |year= 1994 |pmid= 7903580 |doi=
*cite journal | author=de Franchis R, Kozich V, McInnes RR, Kraus JP |title=Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. |journal=Hum. Mol. Genet. |volume=3 |issue= 7 |pages= 1103–8 |year= 1995 |pmid= 7981678 |doi=
*cite journal | author=Kruger WD, Cox DR |title=A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 14 |pages= 6614–8 |year= 1994 |pmid= 8022826 |doi=
*cite journal | author=Kozich V, de Franchis R, Kraus JP |title=Molecular defect in a patient with pyridoxine-responsive homocystinuria. |journal=Hum. Mol. Genet. |volume=2 |issue= 6 |pages= 815–6 |year= 1993 |pmid= 8353501 |doi=

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