Entrez gene ID | | 1203 |
Official gene symbol | | CLN5 |
Full name | | ceroid-lipofuscinosis, neuronal 5 |
Aliases | | ,FLJ90628,NCL, |
Gene summary | | 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. |
Location | | Chromosome: 13 Locus: 13q21.1-q32 |
Gene position | | 77566059 - 77576652 Map Viewer |
Gene orientation | | plus |
Gene size | | 10594 bp |
Gene sequence |
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OMIM ID | | 608102 |
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