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Browse result for Neuronal ceroid lipofuscinosis
※ introduction Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem "lipo-", which is a variation on lipid, and from the term "pigment", used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.
Reference
Wiki: Neuronal ceroid lipofuscinosis
Reference
Wiki: Neuronal ceroid lipofuscinosis
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD02427 | O14773 | 1200 | TPP1 | Tripeptidyl-peptidase 1 | Homo sapiens |
| PTMD03112 | O75503 | 1203 | CLN5 | Bisphosphate synthase CLN5 [Cleaved into: Bisphosphate synthase CLN5, secreted form] | Homo sapiens |
| PTMD03828 | P07339 | 1509 | CTSD | Cathepsin D [Cleaved into: Cathepsin D light chain; Cathepsin D heavy chain] | Homo sapiens |
| PTMD05401 | P50897 | 5538 | PPT1 | Palmitoyl-protein thioesterase 1 | Homo sapiens |
| PTMD06498 | Q13286 | 1201 | CLN3 | Battenin | Homo sapiens |
| PTMD10200 | Q8NHS3 | 25647 | MFSD8 | Major facilitator superfamily domain-containing protein 8 | Homo sapiens |
| PTMD12759 | Q9H3Z4 | 80331 | DNAJC5 | DnaJ homolog subfamily C member 5 | Homo sapiens |
| PTMD13619 | Q9NWW5 | 54982 | CLN6 | Ceroid-lipofuscinosis neuronal protein 6 | Homo sapiens |
| PTMD14040 | Q9UBX1 | 8722 | CTSF | Cathepsin F | Homo sapiens |
