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SUMF1 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SUMF1 gene

The SUMF1 gene provides instructions for creating an enzyme essential for modifying sulfatases, which are responsible for breaking down various sugars, fats, and hormones in the body.

Normal Function

The SUMF1 gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. The FGE enzyme modifies other enzymes called sulfatases, which aid in breaking down substances that contain chemical groups known as sulfates. These substances include a variety of sugars, fats, and hormones. Specifically, FGE converts a protein building block (amino acid) within sulfatases called cysteine into a molecule called C-alpha-formylglycine.

Health Conditions Related to Genetic Changes

Multiple sulfatase deficiency

At least 35 mutations in the SUMF1 gene have been found to cause multiple sulfatase deficiency. This condition is apparent at birth or early childhood and is characterized by neurological decline, scaly skin (ichthyosis), and skeletal abnormalities.

  • Most SUMF1 gene mutations that cause multiple sulfatase deficiency change single amino acids in the FGE enzyme, severely reducing enzyme function or producing an unstable enzyme that is quickly broken down.
  • The activity of multiple sulfatases is impaired because the FGE enzyme modifies all known sulfatase enzymes.
  • Sulfate-containing molecules that are not broken down build up in cells, often resulting in cell death.
  • The death of cells in particular tissues, specifically the brain, skeleton, and skin, causes many of the signs and symptoms of multiple sulfatase deficiency.
  • Research indicates that mutations leading to reduced FGE enzyme function are associated with less severe cases, whereas mutations leading to the production of an unstable FGE enzyme tend to be associated with more severe cases.

Other Names for This Gene

  • AAPA3037
  • C-alpha-formylglycine-generating enzyme 1
  • FGE
  • FGly-generating enzyme
  • sulfatase-modifying factor 1
  • UNQ3037

Frequently Asked Questions

Diagnosis typically begins with clinical evaluation of symptoms such as neurological decline, skin changes, and skeletal abnormalities. Confirmatory testing involves measuring sulfatase enzyme activity in blood or skin fibroblasts, which will be significantly reduced across multiple sulfatase types. Genetic testing of the SUMF1 gene is the definitive diagnostic tool, identifying specific mutations that impair the formylglycine-generating enzyme. Newborn screening programs in some regions may also detect elevated levels of certain sulfatase substrates, prompting further investigation.
Multiple sulfatase deficiency is inherited in an autosomal recessive pattern, meaning both parents must carry one copy of the mutated SUMF1 gene to have an affected child. Parents who are carriers have a 25 percent chance with each pregnancy of having a child with the condition, a 50 percent chance of having a child who is a carrier, and a 25 percent chance of having a child who is neither affected nor a carrier. Genetic counseling and prenatal testing or preimplantation genetic diagnosis (PGD) are available options for families considering future pregnancies.
Mutations in the SUMF1 gene can lead to two main types of enzyme defects: those that reduce the activity of the formylglycine-generating enzyme (FGE) and those that produce an unstable FGE protein that is rapidly degraded. Research indicates that mutations resulting in reduced but present enzyme activity are generally associated with less severe clinical presentations. In contrast, mutations that lead to the complete absence or rapid breakdown of the FGE enzyme are associated with the most severe forms of multiple sulfatase deficiency, characterized by rapid neurological deterioration and early onset of symptoms.
Currently, there is no cure for multiple sulfatase deficiency. Treatment is primarily supportive and focuses on managing symptoms. This includes physical and occupational therapy to maintain mobility and manage skeletal deformities, dermatological care for ichthyosis (scaly skin), and nutritional support. Research into enzyme replacement therapy and gene therapy is ongoing, but these treatments are not yet available for clinical use. Early intervention and a multidisciplinary care team are crucial for improving quality of life.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.