Any feedback?
Literature summary for 4.4.1.1 extracted from
- Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH) (2003), Hum. Genet., 112, 404-408.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | molecular basis of cystathioninuria, MIM 219500, revealed by mutations of enzyme | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | loss of enzyme activity in patients with hereditary cystathioninuria can be caused by nonsense mutations or by missense mutations | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.
Release 2023.1 (January 2023)
Legal
Curated at
Member of
