Application | Comment | Organism |
---|---|---|
medicine | Niemann-Pick A disease is a lysosomal storage disorder caused by a deficiency in acid sphingomyelinase activity, repeated intracerebroventricular infusions of recombinant human acid sphingomyelinase reduce the aberrant lysosomal accumulation of cholesterol and are effective at improving the disease phenotype in the acid sphingomyelinase-knockout mouse as indicated by a partial alleviation of the motor abnormalities | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
sphingomyelin + H2O | - |
Homo sapiens | N-acylsphingosine + choline phosphate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
acid sphingomyelinase | - |
Homo sapiens |
ASM | - |
Homo sapiens |