基因名：
CBS
产品别名：
CBSL； HIP4； CBS； cystathionine beta-synthase； cystathionine beta-synthase； cystathionine beta-synthase； Cystathionine beta-synthase-like protein； beta-thionase； methylcysteine synthase； serine sulfhydrase； 丝氨酸羧甲半胱氨酸合成酶； 胱硫醚β合酶(CbS)；
背景信息：
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].
