XB-FEAT-960068

cln5

This is the community wiki page for the gene cln5 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

06/26/2017 Human name has changed for Entrez Gene: 1203. From ceroid-lipofuscinosis, neuronal 5 to CLN5, intracellular trafficking protein

summary from NCBI

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]