人 CBS (NM_001178008) cDNA克隆

基本信息

Accession: NM_001178008
基因名称: CBS
基因别名: HIP4
基因描述: Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1656 (查看编码区序列)
翻译后氨基酸长度: 551 (查看氨基酸序列)
Transcript Variant: This variant (2) has an alternate 5' UTR exon, as compared to variant 1.

订购信息

产品编号 产品名称 载体 规格 价格
G102264 人 CBS (NM_001178008) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 CBS (NM_000071) cDNA克隆 transcript variant 1
人 CBS (NM_001178008) cDNA克隆 transcript variant 2
人 CBS (NM_001178009) cDNA克隆 transcript variant 3

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]

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