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SUMF1

SUMF1

Reviewed July 2014

What is the official name of the SUMF1 gene?

The official name of this gene is “sulfatase modifying factor 1.”

SUMF1 is the gene's official symbol. The SUMF1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SUMF1 gene?

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.

How are changes in the SUMF1 gene related to health conditions?

multiple sulfatase deficiency - caused by mutations in the SUMF1 gene

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. These changes severely reduce enzyme function or produce 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, cause many of the signs and symptoms of multiple sulfatase deficiency. Research indicates that mutations that lead to reduced FGE enzyme function are associated with the less severe cases of the condition, whereas mutations that lead to the production an of unstable FGE enzyme tend to be associated with the more severe cases of multiple sulfatase deficiency.

Where is the SUMF1 gene located?

Cytogenetic Location: 3p26.1

Molecular Location on chromosome 3: base pairs 3,782,502 to 4,467,281

The SUMF1 gene is located on the short (p) arm of chromosome 3 at position 26.1.

The SUMF1 gene is located on the short (p) arm of chromosome 3 at position 26.1.

More precisely, the SUMF1 gene is located from base pair 3,782,502 to base pair 4,467,281 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SUMF1?

You and your healthcare professional may find the following resources about SUMF1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SUMF1 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SUMF1?

acids ; amino acid ; cell ; cysteine ; deficiency ; endoplasmic reticulum ; enzyme ; gene ; ichthyosis ; molecule ; neurological ; protein ; sulfate

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: July 2014
Published: December 22, 2014