SULF1

Chr 8

sulfatase 1

Also known as: SULF-1

NCBI Gene: 23213 ENSG00000137573 UniProt: Q8IWU6 OMIM: 610012

The protein functions as an extracellular heparan sulfate endosulfatase that selectively removes 6-O-sulfate groups from heparan sulfate proteoglycans, regulating heparin-dependent growth factor signaling. Mutations cause autosomal recessive brachyolmia type 3, a skeletal dysplasia characterized by short stature and distinctive spinal abnormalities. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.46

LOEUF

Mechanism· predicted