cystathionine-beta-synthase|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] (NCBI Entrez Gene Database, 875)
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17 genes co-occuring with the biological term cbs in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
