CBS gene

GPTKB entity

Statements (46)
Predicate Object
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:pyridoxal_phosphate
hemoglobin
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
https://www.w3.org/2000/01/rdf-schema#label CBS gene
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