EC Number   |
Source Tissue |
Reference |
|---|
   2.3.1.78 | cell culture |
from primary skin fibroblasts, wild-type SF4528 and KD8, and MPS IIIC mutants thereof |
661443 |
| 2.3.1.78 | fibroblast |
primary fibroblast |
756105 |
| 2.3.1.78 | leukocyte |
deficiency on leukocytes from patients with Sanfillippo syndrome type C |
487507 |
| 2.3.1.78 | liver |
- |
487501, 487502, 487503, 487504, 676018 |
| 2.3.1.78 | more |
immortalization of cell lines, the cells retain the mucopolysaccharidosis type IIIC phenotype, overview |
661443 |
| 2.3.1.78 | placenta |
- |
487506, 487508, 676018 |
| 2.3.1.78 | skin fibroblast |
- |
661443, 706441 |
| 2.3.1.78 | skin fibroblast |
deficiency on fibroblasts from patients with Sanfillippo syndrome type C |
487500, 487505, 487507 |
| 2.3.1.78 | skin fibroblast |
the enzyme is present in the lysosomal membranes purified from the normal human skin fibroblasts, but absent in those from the skin fibroblasts of patients with mucopolysaccharidosis IIIC |
676018 |
| 2.3.1.78 | urine |
extracellular vesicles isolated from urine |
756105 |
