SIAE Chromosome 11
Sialic acid acetylesterase
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What This Gene Does
This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]
Associated Conditions (1)
Malignant tumor of urinary bladder
Key Variants
RS1042605624
Conflicting classifications of pathogenicity
Health Risk
RS149466359
Conflicting classifications of pathogenicity
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
Health Risk
RS201750697
Conflicting classifications of pathogenicity
Health Risk
RS756175126
Conflicting classifications of pathogenicity
Health Risk
RS758338728
Conflicting classifications of pathogenicity
Health Risk
RS943232433
Conflicting classifications of pathogenicity
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1042605624 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149466359 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS201750697 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756175126 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758338728 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS943232433 | Health Risk | Conflicting classifications of pathogenicity | — |