CBS

The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
Full Name
Cystathionine-Beta-Synthase
Function
Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653).
Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity).
Biological Process
Cysteine biosynthetic process Source: BHF-UCL
Cysteine biosynthetic process from serine Source: InterPro
Cysteine biosynthetic process via cystathionine Source: InterPro
DNA protection Source: BHF-UCL
Homocysteine catabolic process Source: UniProtKB
Homocysteine metabolic process Source: UniProtKB
Hydrogen sulfide biosynthetic process Source: UniProtKB
L-cysteine catabolic process Source: UniProtKB
L-serine catabolic process Source: UniProtKB
L-serine metabolic process Source: UniProtKB
Transsulfuration Source: GO_Central
Cellular Location
Cytoplasm; Nucleus
Involvement in disease
Cystathionine beta-synthase deficiency (CBSD): An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine.
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Anti-CBS antibodies

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Rabbit Anti-CBS Recombinant Antibody (D8F2P) (CBMAB-CP0153-LY)

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Target: CBS
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: D8F2P
Application*: WB
Datasheet SDS

Mouse Anti-CBS Recombinant Antibody (CBXC-1557) (CBMAB-C4944-CQ)

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Target: CBS
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBXC-1557
Application*: E, P, WB, IF
Datasheet SDS

Mouse Anti-CBS Recombinant Antibody (CBXC-2291) (CBMAB-C4943-CQ)

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Target: CBS
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: CBXC-2291
Application*: WB, IP, IF, E, P
Datasheet SDS

Mouse Anti-CBS Recombinant Antibody (CBXC-0095) (CBMAB-C4942-CQ)

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Target: CBS
Host: Mouse
Antibody Isotype: IgG3, κ
Specificity: Human, Mouse, Rat
Clone: CBXC-0095
Application*: E, WB, IF, IP
Datasheet SDS

Mouse Anti-CBS Recombinant Antibody (CBYY-C3146) (CBMAB-C4589-YY)

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Target: CBS
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human, Mouse, Rat
Clone: CBYY-C3146
Application*: E, WB, IF, IP
Datasheet SDS

Mouse Anti-CBS Recombinant Antibody (6A9) (CBMAB-C8065-LY)

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Target: CBS
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 6A9
Application*: E, P, WB, IF
Datasheet SDS

Mouse Anti-CBS Recombinant Antibody (3D10) (CBMAB-C5850-LY)

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Target: CBS
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 3D10
Application*: E, IF, IP, WB
Datasheet SDS

Rabbit Anti-CBS Recombinant Antibody (30) (CBMAB-C5445-LY)

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Target: CBS
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: 30
Application*: WB, IH, IF, E
Datasheet SDS

CBS Matched Antibody Pair (192) (APMAB-192LY)

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Target: CBS
Specificity: Human
Datasheet SDS

Mouse Anti-CBS Recombinant Antibody (CBYY-C1032) (CBMAB-C2469-YY)

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Target: CBS
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human, Mouse, Rat
Clone: CBYY-C1032
Application*: WB, IP, IF, E, P
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IGImmunochromatography
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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