|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:HCU
gptkb:CGL
homocystinuria due to CBS deficiency
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedDisorder
|
gptkb:cardiovascular_disease
developmental delay
skeletal abnormalities
ocular abnormalities
|
|
gptkbp:associatedWith
|
gptkb:homocystinuria
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:cofactor
|
gptkb:hemoglobin
gptkb:pyridoxal_phosphate
|
|
gptkbp:discoveredBy
|
Harvey Mudd et al.
|
|
gptkbp:encodes
|
cystathionine beta-synthase protein
|
|
gptkbp:Entrez_Gene_ID
|
875
|
|
gptkbp:enzymeClassification
|
lyase
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
liver
|
|
gptkbp:fullName
|
gptkb:cystathionine_beta-synthase
|
|
gptkbp:function
|
catalyzes condensation of homocysteine and serine to form cystathionine
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
1542
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
551 amino acids
|
|
gptkbp:locatedOnChromosome
|
21q22.3
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
splice-site
elevated homocysteine levels
|
|
gptkbp:OMIM
|
236200
|
|
gptkbp:orthologInMouse
|
Cbs
|
|
gptkbp:orthologInZebrafish
|
cbs
|
|
gptkbp:pathway
|
methionine metabolism
transsulfuration pathway
|
|
gptkbp:PDB
|
gptkb:4L0D
1JBQ
1M54
|
|
gptkbp:regulates
|
gptkb:S-adenosylmethionine
|
|
gptkbp:UniProtID
|
gptkb:P35520
|
|
gptkbp:bfsParent
|
gptkb:Cystathionine_beta-synthase
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CBS gene
|