Protein Name | cystathionine beta-synthase |
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Organism | Mus musculus |
Gene ID | 12411 |
Gene Symbol | Cbs |
UniProt | Q91WT9 (CBS_MOUSE) |
Relationships |
Total Number of functionally related compound(s) :
143
Total Number of Articles : 201 |
Description |
cystathionine beta-synthase |
Gene Summary |
Enables cystathionine beta-synthase activity. Acts upstream of or within several processes, including endochondral bone morphogenesis; regulation of intracellular signal transduction; and sulfur amino acid metabolic process. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; connective tissue; nervous system; sensory organ; and skeleton. Used to study homocystinuria and hyperhomocysteinemia. Human ortholog(s) of this gene implicated in several diseases, including cerebral infarction; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect. Orthologous to human CBS (cystathionine beta-synthase). [provided by Alliance of Genome Resources, May 2025] |
synonyms |
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Properties | |