CLN8 Back

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

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NCBI Description of CLN8
This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.

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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

CLN8 is highly significantly mutated in
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CLN8 is significantly mutated in
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CLN8 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 CLN8