Gene: SUMF2
Alternate names for this Gene: pFGE
Gene Summary: 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 is located in Chromosome: 7
Location in Chromosome : 7p11.2
Description of this Gene: sulfatase modifying factor 2
Type of Gene: protein-coding