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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CBS (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID875
Official gene symbolCBS
Full namecystathionine-beta-synthase
Aliases,HIP4,
Gene summaryThe 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]
LocationChromosome: 21   Locus: 21q22.3
Gene position44496472 - 44473301  Map Viewer
Gene orientationminus
Gene size23172 bp
Gene sequence
OMIM ID613381