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Literature summary for 4.2.1.22 extracted from

  • Jakubowski, H.; Boers, G.H.; Strauss, K.A.
    Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans (2008), FASEB J., 22, 4071-4076.
    View publication on PubMed

Application

Application Comment Organism
medicine CBS-deficient patients have significantly elevated plasma levels of prothrombotic N-homocysteine-fibrinogen Homo sapiens

Protein Variants

Protein Variants Comment Organism
C165Y the mutation is associated with homocystinuria Homo sapiens
D444N the mutation is associated with homocystinuria Homo sapiens
I152M the mutation is associated with homocystinuria Homo sapiens
I278T the mutation is associated with homocystinuria Homo sapiens
additional information mutations in the cystathionine beta-synthase gene lead to markedly elevated levels of circulating plasma homocysteine-thiolactone Homo sapiens
R125W the mutation is associated with homocystinuria Homo sapiens
R369C the mutation is associated with homocystinuria Homo sapiens
R491C the mutation is associated with homocystinuria Homo sapiens
T434N the mutation is associated with homocystinuria Homo sapiens
V180A the mutation is associated with homocystinuria Homo sapiens
V371M the mutation is associated with homocystinuria Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
CBS
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
heme
-
Homo sapiens
pyridoxal 5'-phosphate
-
Homo sapiens