Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

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.

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 4,065,933 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 4,065,933 to base pair 4,467,281 on chromosome 3.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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 (/glossary).

References

  • Annunziata I, Bouchè V, Lombardi A, Settembre C, Ballabio A. Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. Hum Mutat. 2007 Sep;28(9):928. (http://www.ncbi.nlm.nih.gov/pubmed/17657823?dopt=Abstract)
  • Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell. 2003 May 16;113(4):445-56. (http://www.ncbi.nlm.nih.gov/pubmed/12757706?dopt=Abstract)
  • Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat. 2004 Jun;23(6):576-81. (http://www.ncbi.nlm.nih.gov/pubmed/15146462?dopt=Abstract)
  • Dierks T, Dickmanns A, Preusser-Kunze A, Schmidt B, Mariappan M, von Figura K, Ficner R, Rudolph MG. Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. Cell. 2005 May 20;121(4):541-52. (http://www.ncbi.nlm.nih.gov/pubmed/15907468?dopt=Abstract)
  • Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell. 2003 May 16;113(4):435-44. (http://www.ncbi.nlm.nih.gov/pubmed/12757705?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/285362)
  • Schlotawa L, Ennemann EC, Radhakrishnan K, Schmidt B, Chakrapani A, Christen HJ, Moser H, Steinmann B, Dierks T, Gärtner J. SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. Eur J Hum Genet. 2011 Mar;19(3):253-61. doi: 10.1038/ejhg.2010.219. Epub 2011 Jan 12. (http://www.ncbi.nlm.nih.gov/pubmed/21224894?dopt=Abstract)
  • Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gärtner J. Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. Eur J Hum Genet. 2013 Sep;21(9):1020-3. doi: 10.1038/ejhg.2012.291. Epub 2013 Jan 16. (http://www.ncbi.nlm.nih.gov/pubmed/23321616?dopt=Abstract)
  • Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gärtner J. Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. Hum Mutat. 2008 Jan;29(1):205. (http://www.ncbi.nlm.nih.gov/pubmed/18157819?dopt=Abstract)
  • OMIM: SULFATASE-MODIFYING FACTOR 1 (http://omim.org/entry/607939)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2014
Published: May 25, 2015