CLN5 Back

ceroid-lipofuscinosis, neuronal 5

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NCBI Description of CLN5

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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

CLN5 is highly significantly mutated in
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CLN5 is significantly mutated in
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CLN5 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for CLN5