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SUMF1 sulfatase modifying factor 1

Also known as: FGE; UNQ3037; AAPA3037

Summary

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. [provided by RefSeq, Sep 2009]

Associated conditions

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DescriptionTests
Multiple sulfatase deficiency
MedGen: C0268263OMIM: 272200GeneReviews: Not available
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Genomic context

Location:
3p26.1
Sequence:
Chromosome: 3; NC_000003.12 (4034714..4467282, complement)
Total number of exons:
15

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