Entrez gene ID | | 285362 |
Official gene symbol | | SUMF1 |
Full name | | sulfatase modifying factor 1 |
Aliases | | ,AAPA3037,FGE,MGC131853,MGC150436, |
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. [provided by RefSeq] |
Location | | Chromosome: 3 Locus: 3p26.1 |
Gene position | | 4508966 - 4402829 Map Viewer |
Gene orientation | | minus |
Gene size | | 106138 bp |
Gene sequence |
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OMIM ID | | 607939 |