SUMF1
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | SUMF1 |
| GeneCards | SUMF1 |
| Diseases | SUMF1 |
| wikipedia | SUMF1 |
| SUMF1 | |
| gopubmed | SUMF1 |
| EVS | SUMF1 |
| HEFalMp | SUMF1 |
| MyGene2 | SUMF1 |
| 23andMe | SUMF1 |
| # SNPs | 25 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057517363 | 0 | 4,417,229 | |
| rs1064793391 | 0 | 4,417,183 | |
| rs1085307107 | 3 | 4,452,983 | |
| rs11915920 | 0 | 4,368,850 | |
| rs137852844 | 3 | 4,362,193 | |
| rs137852845 | 3 | 4,376,365 | |
| rs137852846 | 3 | 4,362,224 | |
| rs137852847 | 3 | 4,362,223 | |
| rs137852848 | 3 | 4,376,338 | |
| rs137852849 | 3 | 4,417,132 | |
| rs137852850 | 0 | 4,449,322 | |
| rs137852851 | 3 | 4,467,244 | |
| rs137852852 | 3 | 4,362,236 | |
| rs137852853 | 3 | 4,362,227 | |
| rs137852854 | 3 | 4,418,082 | |
| rs137852855 | 3 | 4,467,245 | |
| rs2587949 | 0 | 4,181,932 | |
| rs2819590 | 0 | 4,467,058 | |
| rs308739 | 0 | 4,334,346 | |
| rs387906976 | 3 | 4,417,180 | |
| rs4685724 | 0 | 3,993,759 | |
| rs770241913 | 3 | 4,418,074 | |
| rs775324176 | 3 | 4,449,258 | |
| rs793391 | 0 | 4,427,508 | |
| rs794185 | 0 | 4,395,674 |
Located on chromosome 3, the SUMF1 gene encodes formylglycine-generating enzyme (FGE), which is required for posttranslational modification and catalytic activation of the family of sulfatase enzymes. Mutations in the SUMF1 gene have been found to cause multiple sulfatase deficiency, a recessively inherited pediatric condition.GHR
A 2018 HuffPost article chronicles the battle of one parent to find funding for gene therapy research aimed at treating multiple sulfatase deficiency patients, including her 5 year old daughter.
