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CBS
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine tocystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated byadenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathioninebeta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcriptvariants have been found for this gene. (provided by RefSeq, May 2010)The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine tocystathionine, the first step in the transsulfuration pathway
The encoded protein is allosterically activated byadenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathioninebeta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcriptvariants have been found for this gene. (provided by RefSeq, May 2010)
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