Aliases for CBS Gene
External Ids for CBS Gene
Previous GeneCards Identifiers 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, B6-Responsive And Nonresponsive Types and Homocystinuria. Among its related pathways are One carbon pool by folate and Folate Metabolism. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is CBSL.
UniProtKB/Swiss-Prot 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).