Cystathionine beta-synthase

GPTKB entity

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:hemoglobin gptkb:pyridoxal_phosphate
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
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
https://www.w3.org/2000/01/rdf-schema#label	Cystathionine beta-synthase