CBS
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=737316
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资源简介：
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]
本基因编码的蛋白质作为一种同源四聚体，催化同型半胱氨酸转化为牛磺氨酸，这是转硫途径中的第一步。编码的蛋白质在腺苷甲硫氨酸的变构激活下发挥作用，并利用吡哆醛磷酸作为辅因子。该基因的缺陷可能导致牛磺氨酸β-合酶缺乏症（CBSD），进而引发高半胱氨酸尿症。该基因是细胞氢硫磺生产的主要贡献者。对于该基因，已发现多种可变剪接的转录体变体。[由RefSeq提供，2016年2月]
提供机构：
Rat Genome Database
