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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02427O147731200
TPP1
Tripeptidyl-peptidase 1
Homo sapiens
PTMD03112O755031203
CLN5
Bisphosphate synthase CLN5 [Cleaved into: Bisphosphate synthase CLN5, secreted form]
Homo sapiens
PTMD03828P073391509
CTSD
Cathepsin D [Cleaved into: Cathepsin D light chain; Cathepsin D heavy chain]
Homo sapiens
PTMD05401P508975538
PPT1
Palmitoyl-protein thioesterase 1
Homo sapiens
PTMD06498Q132861201
CLN3
Battenin
Homo sapiens
PTMD10200Q8NHS325647
MFSD8
Major facilitator superfamily domain-containing protein 8
Homo sapiens
PTMD12759Q9H3Z480331
DNAJC5
DnaJ homolog subfamily C member 5
Homo sapiens
PTMD13619Q9NWW554982
CLN6
Ceroid-lipofuscinosis neuronal protein 6
Homo sapiens
PTMD14040Q9UBX18722
CTSF
Cathepsin F
Homo sapiens