Neuronal ceroid lipofuscinosis
cv_term_accession
KW-0525
canonical
uniprot_keyword
KW-0525
canonical
name
Neuronal ceroid lipofuscinosis
uniprot
synonym
CLN
uniprot
synonym
NCL
uniprot
definition
Protein which, if defective, causes neuronal ceroid lipofuscinosis, a group of neurodegenerative, lysosome storage disorders characterized by intracellular accumulation of autofluorescent wax-like lipid materials in brain and other tissues. Neuronal ceroid lipofuscinoses are associated with variable yet progressive symptoms including seizures, dementia, visual loss, and/or cerebral atrophy.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords