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Literature summary extracted from

  • Casique, L.; Kabil, O.; Banerjee, R.; Martinez, J.C.; De Lucca, M.
    Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins (2013), Gene, 531, 117-124.
    View publication on PubMedView publication on EuropePMC

Activating Compound

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

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.2.1.22 expressed in Escherichia coli Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.2.1.22 D234N the mutation is associated with Venezuelan homocystinuria responsive to vitamin B6. The mutant shows 43% activity compared to the wild type enzyme Homo sapiens
4.2.1.22 T87N the mutation is associated with Venezuelan homocystinuria nonresponsive to vitamin B6. The mutant shows 3.5% activity compared to the wild type enzyme Homo sapiens

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 P35520
-
-

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
-
?

Subunits

EC Number Subunits Comment Organism
4.2.1.22 tetramer
-
Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
4.2.1.22 CBS
-
Homo sapiens

Cofactor

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