Application | Comment | Organism |
---|---|---|
medicine | CBS-deficient patients have significantly elevated plasma levels of prothrombotic N-homocysteine-fibrinogen | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
CBS | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
heme | - |
Homo sapiens | |
pyridoxal 5'-phosphate | - |
Homo sapiens |