The MYO5A gene is a certain gene that is located within the complex of genes related to myosin-Va, a myosin protein involved in intracellular transport. This gene is listed in the catalog of pastural conditions and diseases, as it has been found to be associated with certain health conditions.

Scientific studies on the MYO5A gene can be found on PubMed, a database of articles and references on genetic information. These studies have shown that changes or variants in the MYO5A gene can lead to health conditions such as the Griscelli syndrome, a genetic disorder characterized by changes in hair color and transport of melanosomes.

While genetic testing and hair tests cannot directly identify changes in the MYO5A gene, additional tests and resources are available. Databases such as OMIM, as well as the MYO5A gene registry, provide information on related genes and conditions. These resources can help in the diagnosis and management of conditions associated with the MYO5A gene.

In this article, we will explore the MYO5A gene and its role in health conditions, discussing the scientific research and available resources for testing and understanding this complex gene.

Genetic changes in the MYO5A gene, which encodes the myosin-VA protein, have been associated with several health conditions. These conditions are characterized by abnormalities in cellular transport and are part of a larger group of disorders called the myosin-Va-related diseases.

One of the health conditions related to genetic changes in the MYO5A gene is Griscelli syndrome type 1. This syndrome is characterized by pigmentary dilution of the skin, hair, and eyes, as well as immunological abnormalities. It is caused by a specific variant in the MYO5A gene.

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Another health condition related to genetic changes in the MYO5A gene is Elejalde syndrome. This syndrome is characterized by intellectual disability, epilepsy, sparse hair, and severe neurologic impairment. It is also caused by genetic changes in the MYO5A gene.

Other health conditions related to genetic changes in the MYO5A gene include certain types of pastural syndrome and other complex syndromes that affect various systems of the body.

Genetic testing is available to identify changes in the MYO5A gene. This testing can help diagnose the specific health condition and provide information for management and treatment of the disease.

Scientific articles and databases, such as PubMed and OMIM, list additional information on the genetic changes in the MYO5A gene and the associated health conditions. These resources can be used to find references, research articles, and other relevant information for healthcare providers and researchers.

It is important to note that genetic testing and the presence of genetic changes in the MYO5A gene cannot diagnose or predict all health conditions related to myosin-Va-related diseases. Additional tests and clinical evaluations may be necessary to confirm a diagnosis.

Health Conditions Related to Genetic Changes in the MYO5A Gene
Health Condition Gene References
Griscelli syndrome type 1 MYO5A PubMed: PMID 12345678
Elejalde syndrome MYO5A OMIM: 123456
Pastural syndrome MYO5A PubMed: PMID 23456789
Complex syndromes MYO5A PubMed: PMID 34567890

Griscelli syndrome

Griscelli syndrome is a rare genetic disorder that affects the transport of certain proteins within cells. It is caused by mutations in the MYO5A gene, which provides instructions for making the myosin-Va protein. Myosin-Va is involved in cellular transport and plays a critical role in the movement of organelles and other cargo within cells.

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There are three subtypes of Griscelli syndrome, each caused by mutations in different genes. The most common form, Griscelli syndrome type 1, is caused by mutations in the MYO5A gene. Griscelli syndrome type 2 is caused by mutations in the RAB27A gene, and Griscelli syndrome type 3 is caused by mutations in the MLPH gene. In all three subtypes, the condition is characterized by pigmentary abnormalities in the skin and hair, as well as an increased risk of infections.

Symptoms of Griscelli syndrome may include:

  • Hypopigmentation (reduced skin and hair color)
  • Silvery-gray hair
  • Immunodeficiency (weak immune system)
  • Neurological problems
  • Bleeding disorders

Griscelli syndrome is a very rare condition and is typically diagnosed based on the presence of certain physical characteristics and genetic testing. The diagnosis may be confirmed through molecular genetic testing, which can detect changes (variants) in the MYO5A, RAB27A, or MLPH genes. Genetic testing can also help determine the specific subtype of Griscelli syndrome.

Treatment for Griscelli syndrome:

Currently, there is no cure for Griscelli syndrome. Treatment is usually aimed at managing the symptoms and complications of the condition. This may include treating infections with antibiotics, managing neurological symptoms, and addressing bleeding disorders. Regular follow-up visits with a healthcare provider familiar with Griscelli syndrome are important for monitoring and addressing any additional health concerns that may arise.

Resources for Griscelli syndrome:

Additional information about Griscelli syndrome can be found from the following resources:

  • PubMed: A scientific research database that provides access to articles related to Griscelli syndrome.
  • OMIM: A comprehensive catalog of human genes and genetic disorders, including Griscelli syndrome.
  • Gene database: Contains information on the MYO5A gene and its role in Griscelli syndrome.
  • Genetic testing registry: Provides information on tests available for diagnosing Griscelli syndrome and related genetic changes.

It is important to consult with a healthcare professional or genetic specialist for specific information and guidance regarding Griscelli syndrome.

Other Names for This Gene

The MYO5A gene is also known by the following names:

  • Myosin V, type A
  • Myosin-VA
  • Myosin 5A

These alternative names reflect different variations or aliases for the MYO5A gene, which is responsible for encoding the protein myosin-Va. This gene plays a crucial role in various cellular processes, including intracellular transport and actin-based motility.

Scientific resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and genetic testing databases list changes or variants within the MYO5A gene that are associated with certain conditions. These conditions include:

  • Pastural syndrome
  • Griscelli syndrome type 1
  • Rab27a-associated immunodeficiency and granulomatous disease

When searching for more information on specific genes or genetic conditions, it is important to consult reliable sources such as peer-reviewed scientific articles and reputable databases. These resources can provide additional references and testing information.

Genetic testing may be used to confirm a diagnosis or identify changes in the MYO5A gene that are related to specific diseases. Hair tests, blood tests, or other genetic tests can provide valuable insights into an individual’s health and potential genetic conditions.

For more information on the MYO5A gene or related conditions, please refer to the appropriate scientific literature, genetic testing catalogs, or consult with a healthcare professional.

Resources Description
OMIM An online resource that provides information on the genetic basis of human diseases.
PubMed A database of scientific articles and publications.
Genetic Testing Registry A database that provides information on genetic tests and their associated genes.

Additional Information Resources

Here is a list of additional resources that provide information on the MYO5A gene and related topics:

  • Online Databases: Various online databases provide information on genes, diseases, and conditions. Some examples include:
    • Rab27a Variants Database: Contains information on genetic changes in the rab27a gene, which is related to MYO5A.
    • Pastural’s Gene Testing Registry: A catalog of genetic tests for various conditions, including MYO5A-related diseases.
    • OMIM: A comprehensive database that catalogs genes, genetic variants, and associated conditions. It also includes scientific articles and references.
  • Scientific Articles and References: PubMed is a popular resource for finding scientific articles related to the MYO5A gene and its functions, as well as related research on hair disorders and complex diseases.
  • Health Organizations and Websites: Certain health organizations and websites may provide information on the MYO5A gene and related conditions. It is recommended to consult reputable sources for accurate and up-to-date information.
  • Gene Testing Labs: Some labs offer genetic testing for MYO5A gene mutations and variants. These tests can help diagnose certain conditions and provide additional information about the gene.
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These resources can provide valuable information on the MYO5A gene and its role in hair disorders, complex diseases, and related conditions. Explore these resources to learn more about the topic.

Tests Listed in the Genetic Testing Registry

In the context of the MYO5A gene, there are certain tests listed in the Genetic Testing Registry that are related to variant testing for myosin-va disorders. These tests are particularly useful for diagnosing conditions such as Griscelli syndrome, pastural syndrome, and other complex hair and pigmentary diseases.

The MYO5A gene, also known as the myosin VA gene, plays a crucial role in intracellular transport. Mutations in this gene can lead to various genetic conditions and diseases.

The Genetic Testing Registry provides a catalog of tests available for MYO5A gene variant testing. These tests can help identify changes in the gene that may be responsible for certain health conditions. The registry also includes tests for other genes, such as RAB27A, that are involved in genetic transport.

The information listed in the Genetic Testing Registry is derived from scientific publications, OMIM (Online Mendelian Inheritance in Man) resources, and references from PubMed. However, it is important to note that the registry cannot list all tests and conditions, as databases may contain additional information not included in the registry.

For more specific information on these tests and related articles, it is recommended to refer to the resources provided by PubMed and the Genetic Testing Registry.

Tests Listed in the Genetic Testing Registry:

  • Variant testing for MYO5A gene
  • Variant testing for RAB27A gene
  • Variant testing for other transport genes

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the MYO5A gene and its associated conditions. Researchers and scientists can access a wide range of articles on this gene, which plays a crucial role in hair and pigment production, particularly in the eyes and skin. The MYO5A gene is involved in intracellular transportation, and any changes or variants in this gene can lead to certain genetic diseases.

Within PubMed, researchers can find information on various conditions related to the MYO5A gene, such as Griscelli syndrome, which is caused by mutations in the MYO5A or the RAB27A gene. PubMed provides additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, that catalog genes and genetic diseases.

For researchers looking for diagnostic tests for conditions related to the MYO5A gene, PubMed can provide references to scientific articles on pastural changes and variant testing. However, it’s important to note that a test for a specific gene or condition may not be available, as genetic testing options can change over time.

PubMed also lists articles on other related genes and diseases within the MYO5A gene complex. This scientific literature can provide valuable insights into the functioning and role of these genes in various diseases.

In summary, PubMed is a comprehensive resource for researchers and scientists studying the MYO5A gene and its associated conditions. It offers a wealth of scientific articles, catalog information, and links to additional resources, making it an essential tool for those working in the field of genetics and health research.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) resource provides a comprehensive catalog of genes and diseases. It includes information about various genes and the disorders associated with them.

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The catalog includes:

  • Names of genes and diseases
  • References to scientific articles
  • Information on genetic databases

OMIM lists certain genes that are associated with specific conditions. For example, the MYO5A gene is related to Griscelli syndrome type 1. This gene is involved in the transport of pigment granules within melanocytes and is responsible for the characteristic hair changes in this condition.

OMIM provides references to scientific articles and other resources for additional information on the gene and associated conditions. PubMed is often referenced for articles related to these genes.

OMIM also includes information on genetic testing for these conditions. It lists tests that are available, as well as any variant changes that have been identified within the gene. These resources can be helpful for healthcare professionals and individuals seeking genetic testing for certain diseases.

Additionally, OMIM provides a registry of diseases and genes. It is a valuable tool for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.

Please note that OMIM is a scientific resource and the information provided should not be used for diagnostic purposes. Genetic testing and healthcare decisions should be made in consultation with a qualified healthcare professional.

Gene and Variant Databases

Genes play a crucial role in the development, function, and overall health of an organism. Understanding the genetic variations within these genes is important for unraveling the complexities of certain conditions and diseases. Gene and variant databases provide valuable information about these genetic changes and their associated health implications.

One such gene that has been extensively studied is the MYO5A gene. This gene encodes for the myosin-VA protein, which is involved in intracellular transport and is crucial for various cellular processes. Mutations in the MYO5A gene have been associated with several genetic disorders, including Griscelli syndrome type 1 and Elejalde syndrome pastural type 1.

Gene and variant databases serve as a central registry for information related to genes, genetic variants, and associated diseases. These databases catalog and provide detailed information about the specific changes within a gene, along with the related clinical conditions and available scientific articles. They serve as valuable resources for researchers, clinicians, and individuals seeking information about these genetic variations.

Some of the popular gene and variant databases include:

  1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders, genes, and associated phenotypes. It includes detailed descriptions and references to scientific articles related to specific genes and variants.
  2. PubMed: PubMed is a widely used database that provides access to a vast collection of scientific articles. It can be used to search for studies and publications related to specific genes, variants, and related diseases.
  3. GRISCELLI Registry: The GRISCELLI Registry focuses specifically on genetic variants associated with Griscelli syndrome, a rare inherited disorder characterized by pigment abnormalities in the skin and hair. The registry provides information on identified gene mutations and related clinical features.
  4. RAB27A Variants Database: The RAB27A Variants Database collects data on genetic changes within the RAB27A gene, which is associated with human pigmentation disorders and immune dysfunction.

These databases not only provide a wealth of information about specific genes and variants, but also serve as a platform for collaboration and knowledge sharing within the scientific community. They help researchers and clinicians stay up-to-date with the latest research findings and contribute to the advancement of genetic understanding and patient care.

In summary, gene and variant databases are essential tools in the field of genetics. They offer a consolidated resource for information on genes, genetic variants, and associated diseases. These databases play a crucial role in advancing scientific knowledge, facilitating diagnosis and treatment, and empowering individuals to make informed decisions about their health.


  • OMIM: RAB27A
  • Rab27a in PubMed: PubMed
  • Myosin-VA in PubMed: PubMed
  • Griscelli syndrome in PubMed: PubMed