ASPA Back

aspartoacylase (Canavan disease)

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NCBI Description of ASPA
This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene.

Community Annotation of ASPA Add / Edit ASPA: Annotations

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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

ASPA is highly significantly mutated in
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ASPA is significantly mutated in
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ASPA 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 ASPA