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CLN6 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.
Gene Name: | ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
Synonyms: | CLN6, CLN4A, HsT18960, Protein CLN6, Nclf |
Target Sequences: | NM_017882 NP_060352.1 Q9NWW5 |
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