Entrez gene ID | | 875 |
Official gene symbol | | CBS |
Full name | | cystathionine-beta-synthase |
Aliases | | ,HIP4, |
Gene summary | | 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] |
Location | | Chromosome: 21 Locus: 21q22.3 |
Gene position | | 44496472 - 44473301 Map Viewer |
Gene orientation | | minus |
Gene size | | 23172 bp |
Gene sequence |
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OMIM ID | | 613381 |