Gene:
sulfatase modifying factor 1
Gene ID:
204775
Symbol:
SUMF1
Species:
1000
Description:
C-alpha-formylglycine (FGly), the catalytic residue in the active site of eukaryotic sulfatases, is posttranslationally generated from a cysteine in the endoplasmic reticulum (ER). The genetic defect of FGly formation causes multiple sulfatase deficiency (MSD; MIM 272200), a lysosomal storage disorder. The SUMF1 gene encodes FGly-generating enzyme (FGE) and is mutated in MSD.[supplied by OMIM]