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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CBS-20-RE | 20 (40 μL) | 200 μL |  |
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| CBS-20-OR | 20 (40 μL) | 200 μL |  |
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| CBS-20-GO | 20 (40 μL) | 200 μL |  |
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| CBS-20-GR | 20 (40 μL) | 200 μL |  |
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| CBS-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : CBS
Gene Name : Cystathionine-beta-synthase
Chromosome : CHR 21: 430,768,67-430,531,89
Locus : 21q22.3
Alt. Genes : PLXNC1
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