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CLN6

Official Full Name
CLN6 transmembrane ER protein
Organism
Homo sapiens
GeneID
54982
Background
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]
Synonyms
nclf; CLN4A; CLN6A; HsT18960;

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