Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
CARKL | - |
Homo sapiens |
SHPK | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | cystinosis is caused by mutations in CTNS. The most prevalent CTNS mutation is a homozygous 57-kb deletion. This 57-kb deletion encompasses not only the CTNS gene but also the adjacent gene, CARKL. Patients with this deletion have elevated urinary concentrations of sedoheptulose | Homo sapiens |