SUMF1 Back

sulfatase modifying factor 1

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NCBI Description of SUMF1
This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants.

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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

SUMF1 is highly significantly mutated in
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SUMF1 is significantly mutated in
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SUMF1 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 SUMF1