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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
GeneCards Summary for CBS Gene
CBS (Cystathionine-Beta-Synthase) is a Protein Coding gene. Diseases associated with CBS include classic homocystinuria and homocystinuria caused by cystathionine beta-synthase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is LOC102724560.
UniProtKB/Swiss-Prot for CBS Gene
Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide, especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the brain to protect neurons against hypoxic injury (By similarity).