| Protein Name | cystathionine beta-synthase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 875 |
| Gene Symbol | CBS |
| UniProt | P0DN79 (CBSL_HUMAN), P35520 (CBS_HUMAN), Q9NTF0 (Q9NTF0_HUMAN), B7Z2D6 (B7Z2D6_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
399
Total Number of Articles : 829 |
Description |
cystathionine beta-synthase |
| 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. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016] |
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