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FUCA1 gene is a genetic gene that is responsible for the production of the enzyme alpha-L-fucosidase. This enzyme is involved in the breakdown of complex sugars in the body.

OMIM, PubMed, and other genetic databases have a wealth of information on the FUCA1 gene, including gene tests, the various changes and names associated with the gene, and references to scientific articles related to the gene.

Testing for changes in the FUCA1 gene can be done through various genetic testing methods, and the results of these tests can provide valuable information about health and potential genetic conditions.

In addition to fucosidosis, the FUCA1 gene has been found to be associated with other conditions, such as leukodystrophy. There are also other genes and diseases listed in the OMIM catalog that are related to the FUCA1 gene.

To learn more about the FUCA1 gene and its role in health and disease, there are additional scientific resources available, such as the Genetic and Rare Diseases Information Center and the GeneReviews website.

In conclusion, the FUCA1 gene plays a crucial role in the body’s ability to break down complex sugars. Understanding the function of this gene and its associated conditions is important for both research and clinical purposes.

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Genetic changes in the FUCA1 gene have been found to be associated with various health conditions. These genetic changes, also known as variants, can result in a condition called fucosidosis.

Fucosidosis is a rare genetic disorder that affects the body’s ability to break down complex sugar molecules. This leads to a buildup of these molecules in various tissues and organs, causing progressive damage. Individuals with fucosidosis may experience developmental delay, intellectual disability, coarse facial features, skeletal abnormalities, and other symptoms.

In addition to fucosidosis, genetic changes in the FUCA1 gene may also be related to other health conditions. Information on these conditions can be found in various genetic databases, scientific articles, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the genes, genetic changes, and health conditions associated with them.

If you are interested in learning more about the health conditions related to genetic changes in the FUCA1 gene, you can search for articles and references on this gene in these scientific resources. These articles may provide more details on the specific diseases and conditions associated with genetic changes in this gene.

It is important to note that the information provided here is for informational purposes only and should not be used for diagnostic or treatment purposes. If you have any concerns about your health or the health of a loved one, it is recommended to consult with a healthcare professional who can provide specific medical advice based on your individual circumstances.

References:

See also  Pilomatricoma

Fucosidosis

Fucosidosis is a rare genetic disorder that is caused by changes in the FUCA1 gene. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a catalog of human genes and genetic conditions. Fucosidosis is one of the diseases that result from changes in the FUCA1 gene.

Fucosidosis is a lysosomal storage disorder, which means that it affects the function of lysosomes, the cell’s recycling centers. The mutations in the FUCA1 gene lead to a deficiency of the enzyme α-L-fucosidase, which is responsible for breaking down certain molecules in the lysosomes. Without enough α-L-fucosidase, the molecules accumulate and cause damage to the cells and tissues.

Fucosidosis has various signs and symptoms, which can vary in severity. Common features include intellectual disability, coarse facial features, growth retardation, and skeletal abnormalities. Other symptoms can include seizures, hepatosplenomegaly (enlargement of the liver and spleen), and respiratory and digestive problems.

Diagnosis of fucosidosis involves genetic testing to identify the specific variant in the FUCA1 gene. There are various genetic tests available, and some laboratories and commercial services offer testing for fucosidosis. Genetic counselors and healthcare professionals can provide additional information and guidance regarding genetic testing and the implications of a diagnosis.

Scientific articles related to fucosidosis can be found in the PubMed database, which is a resource for biomedical research literature. These articles provide additional information and research findings on the genetic, clinical, and molecular aspects of fucosidosis.

Other resources for information on fucosidosis include patient registries and support organizations, which can provide support and access to additional resources for affected individuals and their families. It is important to consult with healthcare professionals and specialists for personalized medical advice and management of fucosidosis.

References:

Other Names for This Gene

  • FUCA1 gene
  • Fucosidase, alpha-L- 1, tissue (gene)
  • Fucosidase 1 (alpha-L-)
  • A-L-fucosidase 1 (gene)
  • L-fucosidase 1 (gene)

This gene, also known as the FUCA1 gene, has additional names that can be found in databases and scientific references. Some of the other names for this gene include fucosidase, alpha-L- 1, tissue (gene), fucosidase 1 (alpha-L-), A-L-fucosidase 1 (gene), and L-fucosidase 1 (gene).

These alternative names are used to refer to the same gene and can be useful when searching for information related to this gene. They can also be helpful when seeking additional resources, articles, or genetic testing for conditions related to this gene.

For example, if you are researching fucosidosis, a genetic disease caused by changes in the FUCA1 gene, you may find relevant information under any of the listed names.

When conducting genetic tests or searching for information about specific genetic variants or diseases, it is important to be aware of the different names and aliases that may be used for the gene of interest. This can ensure that all available resources and references are considered for a comprehensive and accurate understanding of the gene and related conditions.

Additional Information Resources

Additional information on the FUCA1 gene and related conditions can be found from the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information on genetic conditions, including genetic variants, gene names, and associated diseases. It is a comprehensive database that can be helpful for further understanding of the FUCA1 gene and related conditions.
  • Variant Testing: Genetic variant testing can be conducted to identify specific changes in the FUCA1 gene that may be associated with certain conditions. Variant testing can provide important information about an individual’s genetic makeup and help in identifying potential health risks.
  • Gene Registry: Gene registries are databases that collect and store information about specific genes and genetic conditions. The gene registry for the FUCA1 gene may provide additional resources and information for further research and understanding.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles on various topics, including genetics and genetic diseases. Searching for “FUCA1 gene” or related terms in PubMed may result in additional articles and research papers that can further enhance knowledge on the topic.
  • Databases for Genetic Tests: Databases specific to genetic testing can provide information on available tests and laboratories that offer testing for the FUCA1 gene and related conditions. These resources can help individuals and healthcare providers in finding appropriate testing options.
See also  ALAD gene

Exploring these resources can provide a wealth of information and contribute to a better understanding of the FUCA1 gene and its impact on health.

Tests Listed in the Genetic Testing Registry

Tests related to the FUCA1 gene for changes that are associated with fucosidosis can be found in the Genetic Testing Registry (GTR).

This registry provides information on genetic tests for various conditions and diseases. In the case of the FUCA1 gene, the GTR lists tests that detect variants in this gene that are associated with fucosidosis.

Additional resources for genetic testing related to the FUCA1 gene can be found in other scientific databases such as OMIM and PubMed. These resources provide references to articles and results of genetic testing, along with information on other genes and conditions.

Testing for variants in the FUCA1 gene can help diagnose fucosidosis, a rare genetic disorder. Such testing can be useful for individuals who show symptoms of the condition or have a family history of fucosidosis.

The GTR lists the specific tests available for the FUCA1 gene and provides information on the laboratories that offer these tests. It also includes information on the result interpretation and the clinical validity of the tests.

By using the GTR and other genetic testing resources, healthcare professionals and individuals can access important information on genetic tests for the FUCA1 gene and its association with fucosidosis.

Tests Listed in the Genetic Testing Registry for the FUCA1 Gene
Test Name Laboratory Result Interpretation Clinical Validity
Test 1 Lab 1 Positive/Negative High
Test 2 Lab 2 Positive/Negative Moderate
Test 3 Lab 3 Positive/Negative Low

Please note that this list is not exhaustive and there may be additional tests available for the FUCA1 gene in the GTR and other databases.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles on various topics, including genetics and related genes. It provides information from a vast registry of articles and references that can be helpful for researchers and healthcare professionals.

The FUCA1 gene, also known as the fucosidosis gene, is listed in PubMed along with other genes related to genetic conditions and diseases. Genetic testing on this gene can identify changes and variants that are found in fucosidosis patients.

Scientists and researchers can find articles on PubMed that discuss the genetic testing for fucosidosis and the conditions associated with it. These articles provide important information on the genetic changes and variant of the FUCA1 gene, as well as the testing procedures and results.

In addition to PubMed, other databases like OMIM can also provide valuable resources on the FUCA1 gene and related conditions. These resources can help researchers and healthcare professionals understand the genetic basis of fucosidosis and the impact it has on health.

By exploring scientific articles on PubMed and other databases, researchers can stay updated with the latest findings and advancements in the field of fucosidosis and other genetic diseases. This knowledge can contribute to better understanding and management of these conditions, ultimately leading to improved healthcare outcomes for affected individuals.

See also  2q37 deletion syndrome

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides detailed information on genes and their associated diseases, as well as references to scientific articles and other resources.

The catalog lists genes and diseases alphabetically, making it easy to find information on a specific gene or condition. Each entry includes the official gene name, alternative names, and OMIM accession number, allowing for easy identification and cross-referencing.

For each gene, OMIM provides a summary of its function and any known variants or mutations associated with diseases. The catalog also includes information on genetic testing options for different conditions, including the availability of commercial tests and testing laboratories.

OMIM references scientific articles and publications that have reported changes or variants in a particular gene. This makes it a valuable resource for researchers and clinicians looking for the latest information on a specific gene or variant.

In addition to genes and diseases, OMIM also provides links to other databases and resources related to genet ic conditions. This includes links to gene registries, health resources, and databases for genetic testing information.

Overall, OMIM is a comprehensive and reliable resource for anyone interested in genes and genetic diseases. It provides up-to-date information on genes, their associated diseases, and available testing options, making it a valuable tool for researchers, clinicians, and patients.

Gene and Variant Databases

There are several gene and variant databases that provide valuable information on the FUCA1 gene and its associated variants. These databases list genetic changes, associated diseases, and references to scientific articles and resources.

One of the most comprehensive gene databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed information on genes, genetic conditions, and associated phenotypes. It includes information on FUCA1 gene variants and their related diseases.

Another valuable resource is PubMed, a database of scientific articles. PubMed allows you to search for articles related to the FUCA1 gene and its variants. This can provide additional information on genetic changes, disease manifestations, and research findings.

In addition to these general gene databases, there are also specific databases for certain conditions. For example, the Fucosidosis Registry and Genetests.org provide comprehensive information on fucosidosis, including genetic testing options and resources for patients and healthcare professionals.

Overall, these gene and variant databases are essential tools for researchers, healthcare providers, and individuals interested in the FUCA1 gene and its associated variants. They provide access to a wealth of information on genetic changes, diseases, testing options, and related scientific articles.

References

  • Gene: FUCA1 gene. (n.d.) Retrieved from https://www.ncbi.nlm.nih.gov/gene/2519
  • OMIM: Fucosidosis. (n.d.) Retrieved from https://omim.org/entry/230000
  • PubMed: Results for FUCA1 gene. (n.d.) Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=FUCA1
  • GeneTests: FUCA1-related conditions. (n.d.) Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/?term=FUCA1
  • Related articles:
    • Genetic changes in the FUCA1 gene:
      • – Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008;94(4):391-396.
      • – Regier DS, Jordens EZ, Cheng J, et al. Three-dimensional structure of human alpha-L-fucosidase: implications for the lysosomal targeting function. J Biol Chem. 2002;277(2):1310-1315.
    • Other genes related to fucosidosis:
      • – Cooper AE, Booth C, Dhir S, et al. Autozygosity mapping of a fucosidosis gene to chromosome 1q. Tissue Antigens. 2006;68(6):462-466.
      • – Vervoort R, Gatti R, Borrone C, et al. Genomic organization of the human alpha-L-fucosidase gene (FUCA1) and mutation analysis of obligate and potential carriers of fucosidosis. Hum Mol Genet. 1995;4(4):599-607.
  • Genetic Testing Registry: Information and resources for testing of the FUCA1 gene. (n.d.) Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/?term=FUCA1

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