CLN6( Human )

Entrez Gene 54982 Entrez Gene 54982
ceroid-lipofuscinosis, neuronal 6, late infantile, variant

Alias

CLN4A|HsT18960|nclf

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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