Protein Name cystathionine beta-synthase
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
  • cystathionine beta-synthase
  • beta-thionase
  • serine sulfhydrase
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Properties