cystathionine beta-synthase

URI: https://gptkb.org/entity/cystathionine_beta-synthase
GPTKB entity
Statements (49)
Predicate Object
gptkbp:instanceOf gptkb:enzyme
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:homocystinuria
gptkbp:catalyzes condensation of homocysteine and serine to form cystathionine
gptkbp:clinical_test enzyme activity assay
gptkbp:cofactor gptkb:pyridoxal_phosphate
hemoglobin
gptkbp:deficiencyCauses gptkb:homocystinuria
gptkbp:discoveredBy gptkb:Herbert_Weissbach
gptkbp:discoveredIn 1964
gptkbp:EC_number 4.2.1.22
gptkbp:encodedBy gptkb:CBS_gene
gptkbp:expressedIn gptkb:kidney
brain
liver
gptkbp:foundIn humans
other mammals
gptkbp:gene gptkb:CBS
https://www.w3.org/2000/01/rdf-schema#label cystathionine beta-synthase
gptkbp:inhibitedBy gptkb:aminooxyacetic_acid
hydroxylamine
gptkbp:involves transsulfuration pathway
gptkbp:locatedOnChromosome 21q22.3
gptkbp:molecularWeight ~63 kDa (monomer)
gptkbp:mutationAssociatedWith developmental delay
skeletal abnormalities
lens dislocation
elevated homocysteine levels
thromboembolism risk
gptkbp:OMIM 236200
gptkbp:orthologIn gptkb:mouse
gptkb:yeast
gptkb:Drosophila_melanogaster
right
gptkbp:pathway cysteine biosynthesis
methionine metabolism
gptkbp:PDB 1JBQ
gptkbp:product gptkb:water
cystathionine
gptkbp:regulates activated by S-adenosylmethionine
gptkbp:structure tetramer
gptkbp:substrate serine
homocysteine
gptkbp:treatment_for_deficiency betaine supplementation
methionine-restricted diet
vitamin B6 supplementation
gptkbp:UniProtID gptkb:P35520
gptkbp:bfsParent gptkb:pyridoxal_phosphate
gptkbp:bfsLayer 7