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The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Gene Name: | sulfatase modifying factor 2 |
Synonyms: | SUMF2, PFGE, Sulfatase modifying factor 2, Sulfatase-modifying factor 2 |
Target Sequences: | BC006159 AAH06159.1 Q8NBJ7 |
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