- accession:NM_001178008
- 基因别名:CBS
- 基因描述:Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:1656
- 翻译后氨基酸长度:551
- TranscriptVariant:This variant (2) has an alternate 5' UTR exon, as compared to variant 1.
- 基因简介: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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列