Gene Symbol | SUMF1 |
Entrez Gene ID | 285362 |
Full Name | sulfatase modifying factor 1 |
Synonyms | AAPA3037,FGE,UNQ3037 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Multiple sulfatase deficiency, 272200 (3) |