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Protein-coding gene in the species Homo sapiens
Sulfatase-modifying factor 2 is an enzyme that in humans is encoded by the SUMF2 gene .[ 5] [ 6]
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.[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000129103 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025538 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A (May 2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases" . Cell . 113 (4): 445–56. doi :10.1016/S0092-8674(03)00348-9 . PMID 12757706 . S2CID 15095377 .
^ a b "Entrez Gene: SUMF2 sulfatase modifying factor 2" .
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