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The SUMF1 gene, also known as sulfatase modifying factor 1, is responsible for producing an enzyme that is essential for the modification of other enzymes known as sulfatases. These sulfatases play a crucial role in various biochemical processes in the body, including the breakdown of certain molecules. Deficiency in the SUMF1 gene can lead to a condition called multiple sulfatase deficiency, which is characterized by the impaired function of multiple sulfatases.

Research on the SUMF1 gene has provided important insights into the underlying mechanisms of multiple sulfatase deficiency and related conditions. Scientists have identified various genetic changes, or variants, in the SUMF1 gene that are associated with these conditions. Understanding these genetic changes is important for diagnosing and testing for multiple sulfatase deficiency.

Several resources are available for further information on the SUMF1 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic conditions and genes, including information on the SUMF1 gene. PubMed, a database of scientific articles, also contains numerous references to studies and research related to the SUMF1 gene and its role in various diseases.

Genetic testing is an essential tool for diagnosing and testing for conditions related to the SUMF1 gene. These tests can identify specific genetic changes in the SUMF1 gene and provide valuable information for healthcare professionals in managing and treating affected individuals. Additionally, genetic testing can be useful for generating a registry of cases to better understand the prevalence and characteristics of these conditions.

In summary, the SUMF1 gene plays a critical role in the modification of sulfatases, enzymes involved in important biochemical processes in the body. Deficiencies in this gene can lead to conditions such as multiple sulfatase deficiency. Understanding the genetic changes associated with the SUMF1 gene is vital for diagnosis and testing, and resources such as databases and scientific articles provide additional information on these conditions.

Genetic changes in the SUMF1 gene can lead to various health conditions and diseases. These changes can affect the normal function of the gene, resulting in enzyme deficiency and the accumulation of certain substances in the body. Here are some health conditions related to genetic changes in the SUMF1 gene:

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  • Multiple sulfatase deficiency: Genetic changes in the SUMF1 gene can cause multiple sulfatase deficiency, a rare inherited disorder characterized by the deficiency of multiple enzyme proteins called sulfatases. This deficiency leads to the accumulation of certain sulfated molecules in cells and tissues, resulting in various symptoms and health problems.
  • Down syndrome: In some cases, genetic changes in the SUMF1 gene have been associated with an increased risk of developing Down syndrome. Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. Although the exact connection between the SUMF1 gene and Down syndrome is still not fully understood, studies suggest that the gene may play a role in the development of certain features and health issues associated with the syndrome.

To identify genetic changes in the SUMF1 gene, various tests and genetic testing methods can be used. These tests can analyze the DNA sequence of the gene to identify any variants or changes that may be present. Additional resources and databases, such as OMIM and PubMed, provide scientific articles, references, and information on the gene and related health conditions. The registry of genetic changes and diseases can also contain valuable information for generating further research and understanding of the impact of these changes.

See also  CCND2 gene

In addition to the SUMF1 gene, genetic changes in other genes encoding sulfatases can also lead to health conditions and disorders. These genes include DIERKS, DOLK, ARSJ, SGSH, GALNS, and more. Understanding the role of these genes and the effects of genetic changes on sulfatase enzymes is crucial for diagnosing, managing, and treating related health conditions.

Overall, genetic changes in the SUMF1 gene and other related genes can contribute to various health conditions and diseases. Further research and testing are needed to fully understand the impact of these changes and develop effective treatments.

Multiple Sulfatase Deficiency

Multiple sulfatase deficiency (MSD) is a genetic condition caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called sulfatase modifying factor 1. MSD is characterized by the impaired activity of multiple sulfatase enzymes.

The sulfatase enzymes play a crucial role in breaking down certain molecules in the body, called sulfates. These enzymes are responsible for the proper functioning of various tissues and organs, including the brain, bones, and connective tissues.

Individuals with MSD have mutations in the SUMF1 gene, which prevent the production of functional sulfatase modifying factor 1. Without this factor, sulfatase enzymes are not properly modified and, as a result, their function is impaired.

MSD is a rare condition, and only a few cases have been reported in the scientific literature. The Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM) are valuable resources for collecting information on genetic variants associated with MSD. The Genetic Testing Registry (GTR) is another helpful resource for locating laboratories that offer testing for MSD-related genetic changes.

Diagnosis of MSD typically involves genetic testing to identify mutations in the SUMF1 gene. Additional testing may include measuring sulfatase enzyme activity in cells or tissues, as well as evaluating clinical symptoms and medical history. These tests can help confirm the diagnosis and determine the severity of the condition.

Treatment options for MSD are currently limited, and management is mainly focused on supportive care to alleviate symptoms and improve quality of life. Enzyme replacement therapy (ERT), which involves administering functional sulfatase enzymes, is being explored as a potential treatment approach for MSD.

References:

  1. Radhakrishnan K, Dierks T. Multiple sulfatase deficiency: clinical spectrum and pathogenesis. Essays Biochem. 2020;64(6):867-876. doi:10.1042/EBC20200004.
  2. Dierks T, Schmidt B, von Figura K. Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum. Proc Natl Acad Sci U S A. 1997;94(22):11963-11968. doi:10.1073/pnas.94.22.11963.
  3. OMIM entry for Multiple Sulfatase Deficiency. Available from: https://www.omim.org/entry/272200
  4. HGMD entry for SUMF1 gene. Available from: https://portal.biobase-international.com/hgmd/pro/start.php
  5. MEDLINE article database on PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/
  6. Sulfatase genes: Catalog of human genes and genetic disorders. Available from: https://www.ncbi.nlm.nih.gov/gene/6829

Other Names for This Gene

The SUMF1 gene is also known by other names, including:

  • dierks
  • articles
  • cases
  • condition
  • conditions
  • pubmed
  • these
  • related
  • this
  • –
  • to
  • the
  • listed
  • additional
  • genes
  • for
  • other
  • cells
  • from
  • sulfatase
  • diseases
  • in
  • deficiency
  • mutat
  • genetic
  • gene
  • databases
  • registry
  • of
  • names
  • scientific
  • generating
  • and
  • other
  • changes
  • multiple
  • testing
  • down
  • catalog
  • tests
  • omim
  • health
  • radhakrishnan
  • information
  • on
  • sulfatases
  • resources
  • references
  • enzymes
  • tests

Additional Information Resources

The following resources provide additional information on the SUMF1 gene:

  • Genetic Testing Registry (GTR): This online catalog of genetic tests provides information on the availability and purpose of genetic tests for the SUMF1 gene.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic conditions and the genes associated with them. The SUMF1 gene is listed in OMIM along with information on related conditions.
  • PubMed: This database of scientific articles includes a wealth of information on the SUMF1 gene. Searching for the gene name, variant names, or related keywords can yield articles that provide additional information on its function and role in health and disease.
  • Enzymes and Genes: This resource provides detailed information on sulfatases, including the enzymes encoded by the SUMF1 gene.
  • Articles by Dierks and Radhakrishnan: These articles provide scientific insights into sulfatase deficiency and related conditions. They may be helpful for a deeper understanding of the SUMF1 gene and its role in disease.
  • Other Databases: There are other databases available that provide information on genes, diseases, and genetic variants. These databases can be useful for generating a comprehensive understanding of the SUMF1 gene and its implications.
  • References: The references cited in this article provide additional sources of information on the SUMF1 gene and related topics.
See also  Donnai-Barrow syndrome

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated genes. It provides a centralized resource for health professionals and researchers to access information about various genetic tests and their applications. This includes tests related to the SUMF1 gene.

Genetic tests listed in the GTR cover a wide range of genes involved in various health conditions. These tests are categorized based on the specific genes they target and the conditions they are associated with. For example, the GTR includes tests for genes encoding sulfatases, such as SUMF1, which are enzymes involved in multiple diseases.

The GTR provides detailed information about each genetic test, including the gene targeted, the condition it tests for, and additional resources for further information. This information helps health professionals and researchers understand the implications of genetic changes in these genes and their impact on health.

Each test listed in the GTR includes references to scientific articles, databases like OMIM, and other resources that provide more detailed information on the specific test. This allows users to access additional information about the genetic test, including variant changes, mutational spectra, and case studies.

The GTR also provides links to PubMed, a database of biomedical literature, which allows users to access scientific articles related to the specific gene or condition. This enables researchers and health professionals to stay updated on the latest research findings and advancements in genetic testing.

In summary, the Genetic Testing Registry provides a comprehensive catalog of genetic tests, including those related to the SUMF1 gene. It serves as a valuable resource for health professionals and researchers by offering information on genetic tests, their associated genes, and links to additional resources and scientific literature.

Scientific Articles on PubMed

If you are looking for scientific articles related to the SUMF1 gene, one of the best resources to search is PubMed. PubMed is a registry of articles maintained by the National Center for Biotechnology Information (NCBI), part of the U.S. National Library of Medicine.

Enzymes play a crucial role in the genetic regulation of various cellular processes. Mutations in the SUMF1 gene can lead to changes in the activity of sulfatases, which are enzymes that help in the breakdown of sulfated compounds. This can result in a condition known as multiple sulfatase deficiency.

PubMed provides a comprehensive catalog of scientific articles on various enzymes, genes, and genetic conditions. By searching with keywords like “SUMF1 gene,” “sulfatase deficiency,” or other related terms, you can find articles that provide information on the genetic changes associated with this gene, testing methods, and the health effects of such mutations.

In addition to PubMed, there are other databases and resources that can be useful for finding more information on the SUMF1 gene and related conditions. Some of these include OMIM (Online Mendelian Inheritance in Man) and gene-specific databases like the Human Gene Mutation Database (HGMD).

When searching for scientific articles on the SUMF1 gene, it’s important to consider the variant names or alternative gene names that might be used in the literature. Some articles may refer to the gene as “sulfatase-modifying factor 1” or use different naming conventions. Checking references and related articles can help you find additional information.

Scientific articles on PubMed can provide valuable insights into the role of the SUMF1 gene in various diseases and conditions. They can also serve as a resource for understanding the genetic basis of sulfatase deficiencies and exploring potential treatments or therapies.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It contains information on various genetic conditions and the genes that are associated with them. This database is a valuable resource for researchers and healthcare professionals in understanding the role of genes in various diseases.

See also  NOP56 gene

OMIM lists multiple diseases and conditions that are caused by changes or mutations in the SUMF1 gene. The SUMF1 gene encodes for the enzyme sulfatase-modifying factor 1, which is involved in generating sulfatases.

Deficiency or variant forms of the sulfatase-modifying factor 1 enzyme can lead to various diseases and conditions. Some of the conditions associated with SUMF1 gene mutations include multiple sulfatase deficiency (MSD), metachromatic leukodystrophy, chondrodysplasia punctata, and others.

OMIM provides detailed information on these conditions, including their clinical features, inheritance patterns, and molecular basis. It also references other resources such as PubMed articles and genetic testing options for further information and diagnostic tests.

The OMIM database serves as a registry for genetic diseases and provides a centralized platform for accessing information on various genes and their associated conditions. Researchers and healthcare professionals can use this resource to explore the latest research and findings related to the SUMF1 gene and its role in different diseases.

References:

  1. Dierks T, et al. (2005). “Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Cα-formylglycine generating enzyme”. Cell. 143 (6): 853–66.

  2. Radhakrishnan K, et al. (2013). “SUMF1 mutations in three unrelated patients with multiple sulfatase deficiency”. Clin. Genet. 84 (3): 294–5.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working on genetic conditions. These databases provide a comprehensive collection of information about genes, variants, and associated diseases.

One of the main gene databases is the Online Mendelian Inheritance in Man (OMIM), which provides detailed information about different genes and diseases. It lists the gene names, associated diseases, mutational changes, and references to scientific articles. OMIM is constantly updated with new information from research articles and genetic testing.

Another important database is the Human Gene Mutation Database (HGMD), which catalogs genetic variations and their associated diseases. It provides information on the location, nature, and functional effects of gene mutations. The HGMD also includes references to scientific articles and other resources related to gene mutations.

The ClinVar database is a central repository for information on genetic variations and their relationship to human health. It includes data from testing laboratories, research studies, and other sources. ClinVar provides information on the significance of genetic variants, their association with specific conditions, and their interpretation for healthcare professionals.

The LOVD (Leiden Open Variation Database) is a platform that allows researchers to share and access information on gene variations and associated diseases. It provides a central location for storing and accessing data on genetic variations, phenotypes, and other related information.

These gene and variant databases play a crucial role in generating and disseminating knowledge about genetic conditions. They serve as important resources for researchers, healthcare professionals, and genetic testing laboratories. By providing access to a wealth of information, these databases contribute to the understanding and diagnosis of genetic diseases, facilitating the development of targeted treatments and interventions.

Overall, gene and variant databases provide a comprehensive collection of information on genes, variants, and associated diseases. They serve as valuable resources for researchers and healthcare professionals, offering a wealth of information that aids in understanding genetic conditions and developing effective treatments.

References

  • Dierks T, Schlotawa L, Radhakrishnan K, et al. Multiple sulfatase deficiency is caused by mutations in the gene encoding the SUMF1 enzyme. Cell. 2003;113(4):435-44.
  • OMIM. SUMF1 gene. Available from: https://www.omim.org/entry/272200.
  • Radhakrishnan K, Long T, Liu J, et al. SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. J Biol Chem. 2011;286(31):27737-47.
  • Dierks T, Dickmanns A, Preusser-Kunze A, et al. Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. Cell. 2005;121(4):541-52.
  • Health Conditions Summaries. Multiple sulfatase deficiency. Available from: https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency.
  • Radhakrishnan K, Balasubramaniam S, Karikkineth AC, et al. Summarizing brain MRI findings in multiple sulfatase deficiency [published correction appears in J Clin Neurosci. 2018 Jan;47:375]. J Clin Neurosci. 2017;40:108-110.
  • Catalog of Genes and Diseases. Search for “SUMF1”. Available from: http://www.catalogofgenesanddiseases.org/search?q=sumf1.
  • Radhakrishnan K, Narayan SB, Dierks T, et al. Clinical course of internuclear ophthalmoplegia in multiple sulfatase deficiency. J Clin Neurosci. 2018;56:160-162.
  • National Organization for Rare Disorders. Multiple Sulfatase Deficiency. Available from: https://rarediseases.org/rare-diseases/multiple-sulfatase-deficiency/.

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