PPT1 Back

palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile)

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NCBI Description of PPT1
The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.

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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

PPT1 is highly significantly mutated in
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PPT1 is significantly mutated in
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PPT1 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 PPT1