Gene Symbol | CBS |
Entrez Gene ID | 875 |
Full Name | cystathionine-beta-synthase |
Synonyms | HIP4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Homocystinuria, B6-responsive and nonresponsive types, 236200 (3); Thrombosis, hyperhomocysteinemic, 236200 (3) |