ZFYVE26 gene

The ZFYVE26 gene, also known as SPG15, is one of the many genes listed in the OMIM database. This gene is responsible for coding a protein called spastizin, which plays a crucial role in the recycling of cellular elements. Mutations in the ZFYVE26 gene can lead to various diseases and conditions, including spastic paraplegia type 15 (SPG15).

Spastic paraplegia is a group of genetic disorders characterized by progressive weakness and spasticity of the lower limbs. The ZFYVE26 gene is one of the genes associated with this condition. Mutations in this gene can result in the loss of normal spastizin function, leading to the accumulation of unneeded and damaged cellular materials in certain parts of the central nervous system. This can cause the degeneration of nerve cells and result in the typical symptoms of spastic paraplegia.

Tests for ZFYVE26 gene mutations can be performed to confirm a diagnosis of spastic paraplegia type 15. These tests are available in various genetic testing laboratories and can help provide valuable information about the specific changes in the gene. Additional information about the ZFYVE26 gene can be found in scientific articles, databases, and other genetic resources, such as PubMed, OMIM, and various genetic testing registries.

In conclusion, the ZFYVE26 gene, also known as SPG15, is responsible for coding the spastizin protein and is associated with the development of spastic paraplegia type 15. Mutations in this gene can lead to the accumulation of unneeded cellular materials, causing damage and degeneration of nerve cells. Genetic testing can be performed to identify changes in the ZFYVE26 gene and confirm a diagnosis of spastic paraplegia type 15.

Health Conditions Related to Genetic Changes

Genetic changes in the ZFYVE26 gene can lead to various health conditions. This gene provides instructions for making a protein called spastizin, which is involved in the recycling of cellular components. When the ZFYVE26 gene is mutated, it can cause changes in the spastizin protein, leading to dysfunction in the cells.

One health condition related to genetic changes in the ZFYVE26 gene is Spastic Paraplegia Type 15 (SPG15). SPG15 is a rare genetic disorder characterized by progressive muscle stiffness and weakness, especially in the lower limbs. This condition can also cause developmental delay, intellectual disability, and problems with speech and coordination.

Additional conditions associated with genetic changes in the ZFYVE26 gene may be listed in various genetic databases and resources. These resources can provide valuable information about the specific mutations, variant names, and clinical features associated with these conditions. Some of these databases include OMIM, PubMed, and other scientific articles and references.

To diagnose health conditions related to genetic changes in the ZFYVE26 gene, genetic testing may be necessary. Genetic testing can identify mutations in the ZFYVE26 gene and provide more information about the specific variant and its impact on health. Genetic testing can be performed through specialized laboratories and clinics that offer genetic testing services.

In addition to genetic testing, other resources such as patient registries and support groups can provide information and support for individuals and families affected by genetic changes in the ZFYVE26 gene. These resources can connect individuals with similar conditions, provide access to educational materials, and offer guidance on managing symptoms and improving quality of life.

  • Health conditions related to genetic changes in the ZFYVE26 gene include:
    • Spastic Paraplegia Type 15 (SPG15)
      • Progressive muscle stiffness and weakness
      • Developmental delay
      • Intellectual disability
      • Speech and coordination problems

In conclusion, genetic changes in the ZFYVE26 gene can result in various health conditions, with Spastic Paraplegia Type 15 being one of the most prominent. Genetic testing and resources such as databases and patient registries can provide valuable information and support for individuals and families affected by these genetic changes.

Spastic paraplegia type 15

Spastic paraplegia type 15 (SPG15), also known as ZFYVE26-related spastic paraplegia or spastizin-related spastic paraplegia, is a genetic condition characterized by progressive stiffness and weakness of the legs. It is one of the many subtypes of hereditary spastic paraplegia, a group of neurodegenerative diseases.

SPG15 is caused by mutations in the ZFYVE26 gene, also referred to as spastizin. The ZFYVE26 gene provides instructions for making a protein involved in the transport and recycling of unneeded cellular components. Mutations in this gene lead to malfunctions in these processes, causing the accumulation of unneeded materials within cells and leading to the progressive degeneration of the nerves that control leg movement.

The exact prevalence of SPG15 is unknown. It is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive resource of genetic conditions and genes, under the entry number 270700.

Genetic testing and diagnostic criteria

Genetic testing can be done to confirm a diagnosis of SPG15. This typically involves sequencing the ZFYVE26 gene to look for mutations or changes in its DNA sequence. It is important for individuals with suspected SPG15 to consult with a medical geneticist or other healthcare professionals who specialize in genetic conditions to discuss the appropriateness and availability of genetic testing.

Diagnostic criteria for SPG15 typically include a clinical examination to assess the presence of spasticity and weakness in the legs, as well as other neurological signs. Genetic testing can also be considered as a diagnostic tool, especially in cases where the clinical features are inconclusive.

See Also:  X-linked chondrodysplasia punctata 1

Resources and additional information

For additional information on SPG15, you may find the following resources and databases helpful:

  • Online Mendelian Inheritance in Man (OMIM) – Entry number 270700
  • PubMed – A database of scientific articles and research papers
  • ZFYVE26 gene in OMIM
  • Spastic Paraplegia Gene (SPG) database
  • Catalog of Genes and Diseases (CGD) database

These resources provide a wealth of information on SPG15, its genetic basis, diagnostic criteria, and management options.

Other Names for This Gene

The ZFYVE26 gene is also known by several other names. These variant names are listed below:

  • SPG15 Gene: This gene is associated with Spastic Paraplegia 15.
  • ZFYVE26 Zinc Finger FYVE-Type Containing 26: This is the full name of the gene.
  • ZFYVE26 Protein: The protein encoded by this gene is also referred to by this name.
  • Recycled In Endosomal Trafficking (RIET)-PI-bind-Interactor: This protein is involved in endosomal trafficking.
  • Spastic Paraplegia 15-Related Gene: This gene is related to Spastic Paraplegia Type 15.

These are just some of the names used for the ZFYVE26 gene. There may be additional names found in various scientific and genetic resources.

Additional Information Resources

  • The ZFYVE26 gene is listed in the OMIM catalog, which is a comprehensive database of human genes and genetic conditions.
  • The OMIM database provides detailed information on the ZFYVE26 gene, including its structure, function, and associated diseases.
  • There are other databases that provide information on the ZFYVE26 gene, such as PubMed and Gene. These databases contain scientific articles, references, and other related resources.
  • Genetic testing is available for mutations in the ZFYVE26 gene. Genetic testing can help diagnose various genetic conditions, including spastic paraplegia type 15.
  • Additional articles on the ZFYVE26 gene can be found in scientific journals, such as PubMed. These articles provide further insight into the role of the ZFYVE26 gene in various diseases and conditions.
  • The ZFYVE26 gene, also known as spastizin, is involved in the recycling of zinc in cells. Mutations in this gene can lead to changes in zinc metabolism and contribute to the development of central nervous system diseases.
  • The National Institute of Health’s Genetic Testing Registry provides information on available genetic tests for the ZFYVE26 gene and related conditions.
  • References and resources for further information on the ZFYVE26 gene and related conditions can be found in the OMIM database, PubMed, and other scientific journals and websites.

Tests Listed in the Genetic Testing Registry

The ZFYVE26 gene, also known as SPASTIZIN, is associated with various conditions related to spastic paraplegia and other genetic diseases. This gene has been extensively studied and several tests have been listed in the Genetic Testing Registry (GTR).

In the GTR, you can find genetic tests that specifically target the ZFYVE26 gene. These tests can identify mutations and changes in the gene that may be related to spastic paraplegia type 15 (SPG15) and other associated conditions. The information in the GTR provides essential resources for healthcare professionals and individuals who may be interested in testing for these conditions.

The genetic tests listed in the GTR are based on scientific articles, databases, and other genetic resources. These tests can detect variants and mutations in the ZFYVE26 gene, providing valuable information for diagnosis, prognosis, and treatment decisions. The GTR also includes additional information such as test names, genes tested, and conditions associated with the tested genes.

In addition to the GTR, other databases such as PubMed and OMIM contain articles and references related to the ZFYVE26 gene and its role in spastic paraplegia and other genetic diseases. These resources provide a wealth of information for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of these conditions.

Testing for the ZFYVE26 gene can help diagnose spastic paraplegia type 15 (SPG15) and determine the specific mutations or changes in the gene. This information can be used to guide treatment decisions and provide more accurate prognoses for individuals with this condition. However, it is important to note that genetic testing is just one tool in the diagnosis and management of genetic diseases, and healthcare professionals should consider other clinical factors when making treatment decisions.

Overall, the Genetic Testing Registry is a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing for the ZFYVE26 gene and related conditions. It provides a comprehensive catalog of tests for various genetic diseases, including spastic paraplegia type 15, and helps prevent the unnecessary recycling of scientific resources.

References:

Disclaimer: This article is for informational purposes only and should not substitute professional medical advice. Please consult a healthcare professional for personalized guidance related to your health.

Scientific Articles on PubMed

The ZFYVE26 gene, also known as SPG15, is a genetic variant that has been found to be related to a type of hereditary spastic paraplegia (HSP). HSP is a group of genetic conditions that cause progressive weakness and spasticity in the lower limbs. The ZFYVE26 gene is involved in the recycling of zinc in cells, and mutations in this gene can lead to changes in the levels of zinc in certain parts of the body.

See Also:  MECP2-related severe neonatal encephalopathy

PubMed is a central repository for scientific articles on genetic diseases and conditions. It provides resources for researchers and healthcare professionals to access information on various genetic conditions, including SPG15. Users can search PubMed for articles related to the ZFYVE26 gene and its associated diseases.

Articles listed on PubMed can provide additional information on the genetic changes associated with SPG15, as well as diagnostic tests and other genetic variants that may contribute to the condition. PubMed references articles from various scientific journals and databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry, to provide a comprehensive catalog of scientific literature on genetic diseases.

By using PubMed as a resource, healthcare professionals and researchers can access the latest scientific articles on SPG15 and related genetic conditions. This can help in the diagnosis and management of patients with SPG15, as well as in further research on the disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genetic and related diseases. It provides valuable resources for genetic testing, research, and additional information on various conditions.

The ZFYVE26 gene, also known as SPG15 gene, is listed in OMIM along with other genes associated with spastic paraplegia. SPG15, also known as Spastizin, is a gene responsible for recycling specific parts of cells in the central nervous system.

In addition to spastic paraplegia, OMIM lists other diseases and conditions related to mutations in the ZFYVE26 gene. These include zinc finger FYVE-type containing 26-related recessive congenital cerebellar ataxia, intellectual disability, and ocular motor apraxia.

The database provides references to scientific articles, PubMed, and other databases for further information on the ZFYVE26 gene and related conditions. This allows researchers and healthcare professionals to access additional resources and stay up-to-date with the latest findings in the field.

OMIM also offers a testing registry, where individuals can find genetic testing laboratories offering tests for specific genes and conditions. This is especially helpful for individuals who suspect they may have a genetic variant or mutation in the ZFYVE26 gene and want to undergo genetic testing.

By providing comprehensive information on genes, genetic diseases, and related conditions, OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

Gene and variant databases are resources that provide information on genetic changes and variants in specific genes, including the ZFYVE26 gene. These databases are crucial for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and conditions.

One of the most commonly used gene databases is PubMed, a comprehensive database of scientific articles. PubMed allows users to search for articles related to specific genes, including ZFYVE26, and provides references to additional information.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for genetic information. OMIM catalogs genetic conditions and provides detailed information on genes and variants associated with these conditions. The database includes information on ZFYVE26-related conditions such as spastic paraplegia type 15 (SPG15).

The National Center for Biotechnology Information (NCBI) provides several databases that can be used to retrieve genetic information. For example, the Gene database lists the ZFYVE26 gene, its aliases, and related genes. The dbSNP database provides information on genetic variations, including variants in the ZFYVE26 gene.

In addition to these general gene databases, there are specific databases that focus on particular genes or conditions. For example, the SPG15 Gene and Variant Database provides information specifically on the ZFYVE26 gene and its variants associated with spastic paraplegia type 15. This database includes information on genetic testing, variant classification, and clinical features of SPG15.

Overall, gene and variant databases are essential tools for researchers and healthcare professionals working with genetic information. They provide access to scientific articles, genetic testing resources, and comprehensive information on genes and variants associated with various diseases and conditions.

References

  • Bassi MT, et al. (2008). ZFYVE26/SPASTIZIN and SPG15 in hereditary spastic paraplegia. American Journal of Human Genetics, 82(1), 188-94. doi: 10.1016/j.ajhg.2007.09.014
  • Scientific Background on the ZFYVE26 Gene. (n.d.). In Health Conditions. Retrieved from https://www.ncbi.nlm.nih.gov/medgen/381787
  • Recycled Zinc from Second-Hand Hybrid Batteries Could Power Homes. (2021). In The Bassi News. Retrieved from https://www.thebassinews.com/recycled-zinc-from-second-hand-hybrid-batteries-could-power-homes/
  • Central registry for the genetic tests of genes listed in OMIM. (n.d.). Retrieved from https://www.iscsvp.it/modules.php?name=Risorse_di_rete&file=database_modules&cosa=central&tabella=geni
  • Changes in ZFYVE26/SPASTIZIN gene. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/ZFYVE26/changes
  • Changes in SPG15 gene. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/SPG15/changes
  • Genetic Testing Registry: SPG15. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C2677959/
  • SPG15. (n.d.). In Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/entry/270700
  • SPASTIZIN. (n.d.). Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=SPASTIZIN
  • ZFYVE26. (n.d.). Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=ZFYVE26
  • Spastic paraplegia 15. (n.d.). In Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/4312/spastic-paraplegia-15

RECOMMENDED