CLN6

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolCLN6
NameCLN6 transmembrane ER protein
Typeprotein-coding
Sourcemygene

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, Oct 2008].

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