CBS, Official Symbol CBSprovided by HGNC Official Full Name cystathionine beta-synthaseprovided by HGNC Primary source HGNC:HGNC:1550 See related Ensembl:ENSG00000160200 MIM:613381; AllianceGenome:HGNC:1550 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CBSL; HIP4 Summary 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] Expression Biased expression in liver (RPKM 30.2), brain (RPKM 11.6) and 6 other tissues See more Orthologs mouse all