Full name: cystathionine beta-synthase

Gene type: protein coding

RefSeq status: REVIEWED

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

Gene size: 23683bp

Exon count: 23