The 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 homo... See more...

Aliases for CBS Gene

Aliases for CBS Gene

  • Cystathionine Beta-Synthase 2 3 4
  • Cystathionine-Beta-Synthase 2 5
  • Serine Sulfhydrase 3 4
  • Beta-Thionase 3 4
  • EC 4.2.1.22 4 52
  • Cystathionine Beta-Synthase-Like Protein 3
  • Methylcysteine Synthase 3
  • CBSL 3
  • HIP4 3

External Ids for CBS Gene

Previous GeneCards Identifiers for CBS Gene

  • GC21M041021
  • GC21M043367
  • GC21M043346
  • GC21M044473
  • GC21M029891

Summaries for CBS Gene

Entrez Gene Summary for CBS Gene

  • The 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 production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for CBS Gene

CBS (Cystathionine Beta-Synthase) is a Protein Coding gene. Diseases associated with CBS include Homocystinuria Due To Cystathionine Beta-Synthase Deficiency and Homocystinuria. Among its related pathways are superpathway of methionine degradation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is CBSL.

UniProtKB/Swiss-Prot Summary for CBS Gene

  • Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity).

Gene Wiki entry for CBS Gene

Additional gene information for CBS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBS Gene

Genomics for CBS Gene

GeneHancer (GH) Regulatory Elements for CBS Gene

Promoters and enhancers for CBS Gene