Cystathionine Beta Synthase (CbS)

HIP4; Beta-thionase; Serine sulfhydrase

SPN	O270
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.

Reference

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Biochemistry 45:13528-13536(2006) [PubMed] [Europe PMC] [Abstract]

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Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

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Hum. Mutat. 9:81-82(1997) [PubMed] [Europe PMC] [Abstract]

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"Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype."
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"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]

"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]

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Hum. Mutat. 19:641-655(2002) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment."
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Hum. Mutat. 22:103-103(2003) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

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Hum. Mutat. 24:352-353(2004) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of homocystinuria in Brazilian patients."
Clin. Chim. Acta 362:71-78(2005) [PubMed] [Europe PMC] [Abstract]

"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]

"Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations."
Hum. Mutat. 27:211-211(2006) [PubMed] [Europe PMC] [Abstract]

"Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients."
Hum. Mutat. 32:835-842(2011) [PubMed] [Europe PMC] [Abstract]

"CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient."
Pathology 43:81-83(2011) [PubMed] [Europe PMC] [Abstract]