检测编号：NS0180033

基因 CBS 与疾病

CBS基因表达产物胱硫醚合成酶能将高半胱氨酸转化为胱硫醚和甲硫氨酸。在依赖维生素B6的高半胱氨酸代谢过程中发挥重要作用，并且是包括甲硫氨酸在内的氨基酸合成途径关键酶。已发现150多种突变，最常见的是I278T和G307S。该酶活性丧失导致高半胱氨酸及其他副产物在血液和尿液中堆积，对机体造成损害。

基因名称	基因全名	基因位置	外显子个数	CDS长度
CBS	cystathionine-beta-synthase	21q22.3	17	约2590 bp
基因摘要	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].