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Official Full Name
cystathionine-beta-synthase
Background
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.
Synonyms
CBS; cystathionine-beta-synthase; cystathionine beta-synthase; HIP4; beta-thionase; serine sulfhydrase; methylcysteine synthase; HIP4, CBS

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