Entrez gene ID | | 54982 |
Official gene symbol | | CLN6 |
Full name | | ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
Aliases | | ,FLJ20561,HsT18960,nclf, |
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. [provided by RefSeq] |
Location | | Chromosome: 15 Locus: 15q23 |
Gene position | | 68522080 - 68499330 Map Viewer |
Gene orientation | | minus |
Gene size | | 22751 bp |
Gene sequence |
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OMIM ID | | 606725 |
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