Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.2.1.22 (cystathionine beta-synthase)
 965 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A CBS cDNA isolated from an adult liver cDNA library was cloned and sequenced. The 5' untranslated region (5'-UTR) contains a sequence which is only partially common (88nt) with that previously published (3). It is expressed as a 2.5kb species mostly in liver and pancreas and faintly in brain, heart, kidney and lung and as a 3.7 kb in pancreas and liver. The human cystathionine beta-synthase gene (CBS) was isolated from a cosmid genomic library and its structure was determined. The CBS gene is at least 23 kb long and is composed of 17 exons. The organization of the human gene is different from that of the rat especially in the 5'-UTR. In the rat gene the ATG is present in exon 1, conversely in the human gene first the ATG is present in exon 3 and second the 5'-UTR contains two different exons 1 (E1a and E1b) linked with exon 2.
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PMID:Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs. 759 11

Cystathionine beta-synthase [CBS; l-serine hydro-lyase (adding homocysteine), EC 4.2.1.22] catalyzes the first committed step of transsulfuration and is the enzyme deficient in classical homocystinuria. In this report, we describe the molecular cloning and the complete nucleotide sequence of the human CBS gene. We report a total of 28,046 nucleotides of sequence, which, in addition to the CBS gene, contains approximately 5 kb of the 5' flanking region. The human CBS gene contains 23 exons ranging from 42 to 209 bp. The 5' UTR is formed by 1 of 5 alternatively used exons and 1 invariably present exon, while the 3' UTR is encoded by exons 16 and 17. We also describe the identification of two alternatively used promoter regions that are GC rich (approximately 80%) and contain numerous putative binding sites for Sp1, Ap1, Ap2, and c-myb, but lack the classical TATA box. The CBS locus contains an unusually high number of Alu repeats, which may predispose this gene to deleterious rearrangements. Additionally, we report on a number of DNA sequence repeats that are polymorphic in North American and European Caucasians.
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PMID:The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. 979 Jul 50

In this study, single nucleotide polymorphisms (SNPs) involved in homocysteine metabolism such as CT replacement in the 677th nucleotide in 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme; 68-bp insertion in the 844th nucleotide of cystathionine beta-synthase (CBS) enzyme; 6-bp insertion/deletion in the region of 3'UTR in thymidylate synthase (TYMS) enzyme and 19-bp deletion in dihydrofolate reductase (DHFR) enzyme were investigated. The effects of these mutations on homocysteine levels were studied. As a result; we found that TT genotype of MTHFR 677 CT is an influencing factor on homocysteine levels in Turkish population. Furthermore, there seems to be another MTHFR 677 TT haplotype, which does not have an effect on homocysteine levels. Our data revealed that other SNPs did not have any influence on homocysteine levels.
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PMID:Single nucleotide polymorphisms that affect homocysteine levels in Turkish population. 1879 60