CBS (21q22.3) Cystationibetasyntaasi

https://www.ncbi.nlm.nih.gov/gene/875

Official Symbol

CBS

Official Full Name

cystathionine-beta-synthaseprovided by HGNC

Gene type

protein coding

Also known as

CBSL; HIP4

SummaryThe protein encoded by this gene 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. This gene is a major contributor to cellular hydrogen sulfide (H2S)  production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]

Expression Biased expression in liver (RPKM 30.2), brain (RPKM 11.6) and 6 other tissues See more

Orthologs mouse all

Preferred Names

cystathionine beta-synthase

Names

Cystathionine beta-synthase-like protein

beta-thionase

methylcysteine synthase

serine sulfhydrase

 

Related articles in PubMed

1. Cystathione β-Synthase Is Increased in Thyroid Malignancies. Turbat-Herrera EA, et al. Anticancer Res, 2018 Nov. PMID 30396922  Cystathione β-synthase (CBS) catalyzes the conversion of homocysteine and cysteine to hydrogen sulfide (H₂S) and cystathione, via the trans-sulfuration pathway
2. CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children. Ibrahim S, et al. Mol Biol Rep, 2018 Jun. PMID 29600437
3. Heme interaction of the intrinsically disordered N-terminal peptide segment of human cystathionine-β-synthase. Kumar A, et al. Sci Rep, 2018 Feb 6. PMID 29410458, Free PMC Article
4. CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. Poloni S, et al. Mol Genet Genomic Med, 2018 Mar. PMID 29352562, Free PMC Article
5. Allosteric control of human cystathionine β-synthase activity by a redox active disulfide bond. Niu W, et al. J Biol Chem, 2018 Feb 16. PMID 29298893, Free PMC Article

See all (365) citations in PubMed