LIPA Back

lipase A, lysosomal acid, cholesterol esterase (Wolman disease)

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NCBI Description of LIPA

This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants encoding the same protein 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

LIPA is highly significantly mutated in
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LIPA is significantly mutated in
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LIPA 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 LIPA