IDS Chromosome X
Iduronate 2-sulfatase
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What This Gene Does
This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000010404
Associated Conditions (15)
Mucopolysaccharidosis
MPS-II
Inborn genetic diseases
MPS-III-A
IDS-related disorder
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
type II
mild form
See cases
Mucopolysaccharidosis type 2
severe form
Familial cancer of breast
Key Variants
RS104894863
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis
Health Risk
RS113993952
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis
Health Risk
RS113993953
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis
Health Risk
RS11549010
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mucopolysaccharidosis, MPS-II
Health Risk
RS138918423
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, Inborn genetic diseases
Health Risk
RS139495864
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis
Health Risk
RS141037133
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, Inborn genetic diseases
Health Risk
RS1412895796
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis
Health Risk
RS141720810
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, MPS-III-A
Health Risk
RS144081417
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, MPS-III-A
Health Risk
RS146458524
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, MPS-III-A
Health Risk
RS147108245
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-II, MPS-III-A
Health Risk
All Variants (318)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2520862570 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS2520862765 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS2520895871 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, IDS-related disorder |
| RS2520900502 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Mucopolysaccharidosis, MPS-II |
| RS2520901934 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS375836575 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS398123248 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS398123250 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS797044502 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS797044770 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS797044782 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS864622771 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS864622773 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS864622779 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS869025301 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS869025302 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS886044835 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |
| RS886044837 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-II, Mucopolysaccharidosis |