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Literature summary for 4.2.1.22 extracted from

  • Mendes, M.I.; Colaco, H.G.; Smith, D.E.; Ramos, R.J.; Pop, A.; van Dooren, S.J.; Tavares de Almeida, I.; Kluijtmans, L.A.; Janssen, M.C.; Rivera, I.; Salomons, G.S.; Leandro, P.; Blom, H.J.
    Reduced response of cystathionine beta-synthase (CBS) to S-adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in homocystinuria patients (2014), J. Inherit. Metab. Dis., 37, 245-254.
    View publication on PubMed

Activating Compound

Activating Compound Comment Organism Structure
S-adenosyl-L-methionine the enzyme is allosterically activated (2-3fold) by S-adenosyl-L-methionine Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli BL21(DE3) cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
D444N the mutant shows 97% activity compared to the wild type enzyme when expressed in Escherichia coli Homo sapiens
I278T the mutant shows 0.7% activity compared to the wild type enzyme when expressed in Escherichia coli Homo sapiens
P427L/S500L the mutant is almost not activated by S-adenosyl-L-methionine Homo sapiens
P49L the mutant shows 39% activity compared to the wild type enzyme when expressed in Escherichia coli Homo sapiens
R336H the mutant shows 0.43% activity compared to the wild type enzyme when expressed in Escherichia coli Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
CBS
-
Homo sapiens