Cystathionine beta-synthase

URI: https://gptkb.org/entity/Cystathionine_beta-synthase
GPTKB entity
Statements (47)
Predicate Object
gptkbp:instanceOf gptkb:enzyme
gptkbp:alternativeName gptkb:CBS
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 cytosol
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
gptkbp:mutationAssociatedWith gptkb:p.P49L
elevated homocysteine levels
p.G307S
p.I278T
p.R125Q
p.R266K
p.R336C
p.R369C
p.T353M
gptkbp:OMIM 236200
gptkbp:orthologInMouse Cbs
gptkbp:orthologInYeast gptkb:CYS4
gptkbp:pathway cysteine biosynthesis
methionine metabolism
gptkbp:PDB gptkb:4L0D
gptkbp:product gptkb:water
cystathionine
gptkbp:regulates gptkb:S-adenosylmethionine
gptkbp:structure homotetramer
gptkbp:substrate serine
homocysteine
gptkbp:UniProtID gptkb:P35520
gptkbp:bfsParent gptkb:CSB
gptkbp:bfsLayer 6