Aliases for SUMF2 Gene
External Ids for SUMF2 Gene
Previous GeneCards Identifiers for SUMF2 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for SUMF2 Gene
SUMF2 (Sulfatase Modifying Factor 2) is a Protein Coding gene. Diseases associated with SUMF2 include Multiple Sulfatase Deficiency and Phosphoserine Phosphatase Deficiency. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is SUMF1.
UniProtKB/Swiss-Prot Summary for SUMF2 Gene
Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1.