SULF1 Chromosome 8
Sulfatase 1
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What This Gene Does
This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
8q13.2-q13.3
Ensembl
ENSG00000137573
Associated Conditions (1)
Anophthalmia-microphthalmia syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117639561 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS538017286 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |