cystathionine beta-synthase (serine sulfhydrase, beta-thionase, CBS)

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Function

L-serine + L-homocysteine <--> L-cystathionine + H2O

Cofactor: pyridoxal phosphate

Structure

Compartment

cytoplasm, nucleus

Alternative splicing

named isoforms=2

Expression

  • in adults, expressed in liver & pancreas > heart & brain > lung & kidney.
  • in fetus, expressed in brain, liver & kidney

Pathology

Laboratory

More general terms

Additional terms

References

  1. Stryer Biochemistry WH Freeman & Co, New York,1988, pg 583-84
  2. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2199
  3. CBS mutation database http://www.uchsc.edu/cbs/cbsdata/cgidata.htm
  4. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=CBS
  5. UniProt http://www.uniprot.org/uniprot/P35520.html

Database