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cln6

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Official Full Name
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
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.
Synonyms
CLN6; ceroid-lipofuscinosis, neuronal 6, late infantile, variant; ceroid-lipofuscinosis neuronal protein 6; FLJ20561; HsT18960; nclf; CLN4A

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