Have questions? Visit https://www.reddit.com/r/SNPedia

SUMF1

From SNPedia
is agene
is mentioned by
ClinVarSUMF1
GeneCardsSUMF1
DiseasesSUMF1
wikipediaSUMF1
googleSUMF1
gopubmedSUMF1
EVSSUMF1
HEFalMpSUMF1
MyGene2SUMF1
23andMeSUMF1
# SNPs25
 Max MagnitudeChromosome positionSummary
rs105751736304,417,229
rs106479339104,417,183
rs108530710734,452,983
rs1191592004,368,850
rs13785284434,362,193
rs13785284534,376,365
rs13785284634,362,224
rs13785284734,362,223
rs13785284834,376,338
rs13785284934,417,132
rs13785285034,449,322
rs13785285134,467,244
rs13785285234,362,236
rs13785285334,362,227
rs13785285434,418,082
rs13785285534,467,245
rs258794904,181,932
rs281959004,467,058
rs30873904,334,346
rs38790697634,417,180
rs468572403,993,759
rs77024191334,418,074
rs77532417634,449,258
rs79339104,427,508
rs79418504,395,674

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.