Gene: SUMF1
Alternate names for this Gene: AAPA3037|FGE|UNQ3037
Gene 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.
Gene is located in Chromosome: 3
Location in Chromosome : 3p26.1
Description of this Gene: sulfatase modifying factor 1
Type of Gene: protein-coding
Gene: LOC100130207
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