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Browse result for Gaucher's disease
※ introduction A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Reference
DiseaseOntology: Gaucher's disease
Reference
DiseaseOntology: Gaucher's disease
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00885 | P04062 | 2629 | GBA1 | Lysosomal acid glucosylceramidase | Homo sapiens |
| PTMD03841 | P07602 | 5660 | PSAP | Prosaposin [Cleaved into: Saposin-A ; Saposin-B-Val; Saposin-B ; Saposin-C ; Saposin-D ] | Homo sapiens |