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  • Selenocompound metabolism
    Homo sapiens (human) one gene
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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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