SUMF1 Chromosome 3
Sulfatase modifying factor 1
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What This Gene Does
This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Associated Conditions (4)
Inborn genetic diseases
Multiple sulfatase deficiency
SUMF1-related disorder
Spinocerebellar ataxia type 15/16
Key Variants
RS1064793391
Conflicting classifications of pathogenicity
Inborn genetic diseases, Multiple sulfatase deficiency, Inborn genetic diseases
Health Risk
RS1334585480
Conflicting classifications of pathogenicity
Inborn genetic diseases, Multiple sulfatase deficiency, Inborn genetic diseases
Health Risk
RS137917233
Conflicting classifications of pathogenicity
Multiple sulfatase deficiency, SUMF1-related disorder, Multiple sulfatase deficiency
Health Risk
RS139267495
Conflicting classifications of pathogenicity
Multiple sulfatase deficiency, Inborn genetic diseases, Multiple sulfatase deficiency
Health Risk
RS141957829
Conflicting classifications of pathogenicity
Multiple sulfatase deficiency, Multiple sulfatase deficiency
Health Risk
RS143754187
Conflicting classifications of pathogenicity
Multiple sulfatase deficiency, Multiple sulfatase deficiency
Health Risk
RS1460272243
Conflicting classifications of pathogenicity
Multiple sulfatase deficiency, Multiple sulfatase deficiency
Health Risk
RS146050361
Conflicting classifications of pathogenicity
Multiple sulfatase deficiency, Multiple sulfatase deficiency
Health Risk
RS1701517964
Conflicting classifications of pathogenicity
Multiple sulfatase deficiency, Inborn genetic diseases, Multiple sulfatase deficiency
Health Risk
RS1702889459
Conflicting classifications of pathogenicity
Inborn genetic diseases, Multiple sulfatase deficiency, Inborn genetic diseases
Health Risk
RS1703021709
Conflicting classifications of pathogenicity
Multiple sulfatase deficiency, Multiple sulfatase deficiency
Health Risk
RS200142963
Conflicting classifications of pathogenicity
Multiple sulfatase deficiency, Multiple sulfatase deficiency
Health Risk
All Variants (126)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749445028 | Health Risk | Pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS749832328 | Health Risk | Pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS754069091 | Health Risk | Pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS757323641 | Health Risk | Pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS761237429 | Health Risk | Pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS770241913 | Health Risk | Pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS775324176 | Health Risk | Pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS867197652 | Health Risk | Pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS1085307107 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS1237016251 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS1293658639 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852846 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852847 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency, Spinocerebellar ataxia type 15/16 |
| RS137852849 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852851 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852853 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852855 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS1421066733 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS1559281733 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS1702887095 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2125134167 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2469852998 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS759888604 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS769349880 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS772711848 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS773400437 | Health Risk | Pathogenic/Likely pathogenic | Multiple sulfatase deficiency, Multiple sulfatase deficiency |