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Literature summary extracted from

  • Krijt, J.; Kopecka, J.; Hnizda, A.; Moat, S.; Kluijtmans, L.A.; Mayne, P.; Kozich, V.
    Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency (2011), J. Inherit. Metab. Dis., 34, 49-55.
    View publication on PubMedView publication on EuropePMC

Activating Compound

EC Number Activating Compound Comment Organism Structure
4.2.1.22 S-adenosyl-L-methionine an allosteric activator Homo sapiens

Application

EC Number Application Comment Organism
4.2.1.22 diagnostics evaluation of plasma cystathionine beta-synthase activity in cystathionine beta-synthase-deficient patients for utilization of the assay in diagnosis and study of cystathionine beta-synthase deficiency Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
4.2.1.22 cytosol
-
 Homo sapiens 5829
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
4.2.1.22 L-serine + L-homocysteine Homo sapiens
-
 L-cystathionine + H2O
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
4.2.1.22 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
4.2.1.22 kidney
-
 Homo sapiens
-
4.2.1.22 liver
-
 Homo sapiens
-
4.2.1.22 muscle
-
 Homo sapiens
-
4.2.1.22 pancreas
-
 Homo sapiens
-
4.2.1.22 plasma cystathionine beta-synthase activities in wild-type individuals, and in hetero-, and homozygote cystathionine beta-synthase mutants, overview Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.2.1.22 L-serine + L-homocysteine
-
 Homo sapiens L-cystathionine + H2O
-
 ?

Synonyms

EC Number Synonyms Comment Organism
4.2.1.22 CBS
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
4.2.1.22 pyridoxal 5'-phosphate
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
4.2.1.22 malfunction cystathionine beta-synthase deficiency is a well-known genetic disease affecting the first step in the conversion of homocysteine to cysteine and ultimately to inorganic sulfur. The disease occurs in a mild and a severe form, phenotypes, overview. Cystathionine beta-synthase activities in wild-type individuals, and in hetero-, and homozygote cystathionine beta-synthase mutants, overview Homo sapiens