ARSA Back

arylsulfatase A

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NCBI Description of ARSA
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene.

Community Annotation of ARSA Add / Edit ARSA: 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

ARSA is highly significantly mutated in
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ARSA is significantly mutated in
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ARSA 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 ARSA