SUMF1

Chr 3AR

sulfatase modifying factor 1

Also known as: AAPA3037, FGE, UNQ3037

NCBI Gene: 285362 ENSG00000144455 UniProt: Q8NBK3 OMIM: 607939

This gene encodes formylglycine-generating enzyme, which activates sulfatases by oxidizing a cysteine residue to form the essential 3-oxoalanine (formylglycine) residue required for sulfatase activity. Mutations cause multiple sulfatase deficiency, an autosomal recessive lysosomal storage disorder characterized by combined deficiency of all cellular sulfatases. The pathogenic mechanism involves loss of sulfatase activation, leading to accumulation of sulfated substrates and progressive neurodegeneration.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Multiple sulfatase deficiencyMIM #272200

Clinical highlights

Gene-disease validity (ClinGen)

mucosulfatidosis · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.07

LOEUF

LOF

Mechanism· G2P

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GeneReview available — SUMF1