ASH1L gene

The ASH1L gene is one of the many genes that play a role in regulating the methylation of genes. It is a variant of the ASH1L gene that is associated with various diseases and conditions. Additional research is needed to fully understand the impact of this variant on health.

According to PubMed, there are numerous resources and databases available for obtaining information on the ASH1L gene and related conditions. One such resource is OMIM, which catalogs and provides references to articles and scientific research on this gene and its associated disorders.

Testing for changes in the ASH1L gene can be performed through genetic testing. This can help in diagnosing and understanding the spectrum of conditions and disorders related to this gene. Genetic testing can also provide valuable information for individuals and families affected by these conditions.

The ASH1L gene belongs to a family of methyltransferases that regulate the methylation of histone-lysine. The specific role of this gene in the genetic regulation of various conditions is still being studied. However, the ASH1L gene is known to be involved in the regulation of gene expression and plays a key role in cell development and differentiation.

Health Conditions Related to Genetic Changes

Genetic changes in the ASH1L gene have been linked to several health conditions. The ASH1L gene is involved in the regulation of gene expression through histone-lysine methylation. Methylation of histones is a process that helps control the activity of certain genes.

Changes in the ASH1L gene can lead to a spectrum of health conditions. Some of the listed conditions related to genetic changes in the ASH1L gene include:

  • Autism spectrum disorder
  • Intellectual disability
  • Developmental delay
  • Congenital heart defects
  • Abnormal facial features

These conditions are characterized by a wide range of symptoms and can vary in severity. It is important to note that not everyone with genetic changes in the ASH1L gene will develop these health conditions.

For more information on specific health conditions related to genetic changes in the ASH1L gene, additional resources can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other articles and references. Genetic testing may also be available to further evaluate these genetic changes and their impact on an individual’s health.

Resources for Health Conditions Related to Genetic Changes in the ASH1L Gene
Database/Registry Website
OMIM https://omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/
ASH1L Genetic Testing https://www.genetests.org/

These resources can provide valuable information on the genetic changes, associated health conditions, and available testing options for individuals and their families.

Autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and interaction, as well as restricted and repetitive patterns of behavior, interests, or activities. ASD encompasses a wide range of symptoms and can vary in severity.

Research suggests that genetic factors play a significant role in the development of ASD. Many genes have been identified as being associated with the disorder, including the ASH1L gene.

The ASH1L gene encodes a protein called ASH1-like histone methyltransferase, which is involved in the regulation of gene expression through histone lysine methylation. Variants in this gene have been linked to ASD.

Scientists and researchers have been studying the genetic basis of ASD to better understand the disorder and develop diagnostic tests and treatments. Various resources and databases, such as OMIM, PubMed, and genetic testing catalogs, provide additional information on ASD and related genes.

These databases contain scientific articles, references, and information on genetic changes and variants in genes associated with ASD. Health registry resources also provide valuable information for individuals and families affected by ASD.

Genetic testing can be performed to identify genetic variants and changes that may contribute to ASD. Testing can help in the diagnosis and management of the disorder.

Furthermore, studying the ASH1L gene and other related genes involved in histone lysine methylation may provide insights into the underlying molecular mechanisms of ASD and potential targets for therapeutic interventions.

In conclusion, ASD is a complex disorder with a strong genetic component. The ASH1L gene and other related genes involved in histone lysine methylation are being investigated for their potential roles in the development and manifestation of ASD. Understanding the genetic basis of the disorder and identifying specific genetic variants can aid in diagnosis, treatment, and support for individuals with ASD and their families.

Other Names for This Gene

ASH1L gene is also known by the following names:

  • KMT2H – This gene is listed as KMT2H in some databases and scientific articles.
  • ASK – ASH1L gene is sometimes referred to as ASK.
  • ASH1-like – This gene is similar to the ASH1 gene, which is involved in the regulation of gene expression.
  • H3K4 methyltransferase – ASH1L is a histone-lysine N-methyltransferase, responsible for adding methyl groups to histone H3 at lysine 4 position.
  • Catalog of Somatic Mutations in Cancer (COSMIC) – ASH1L gene is also included in the COSMIC database, which catalogs genetic changes found in various cancers.
  • Autism Spectrum Disorder – Some studies have suggested that changes in the ASH1L gene may be associated with autism spectrum disorder (ASD).
  • Genetic testing – Genetic testing panels for various conditions may include the ASH1L gene as a target for analysis.
  • Additional genetic variants – Other genetic variants and mutations in the ASH1L gene have been described in scientific literature.
  • Genetic information resources – Online resources such as the National Center for Biotechnology Information (NCBI) and Genetic Testing Registry (GTR) provide information on the ASH1L gene and related genes.
  • PubMed articles – PubMed, a scientific database, contains articles related to the ASH1L gene and its role in various diseases and conditions.
  • Regulation of gene expression – ASH1L gene is involved in the regulation of gene expression, particularly through its role in histone methylation.
  • Methyltransferases – ASH1L belongs to a family of methyltransferases, enzymes that add methyl groups to various molecules, including histones.
  • H3K36 methyltransferases – ASH1L is closely related to other genes in the same family of H3K36 methyltransferases.
See Also:  PHEX gene

Additional Information Resources

If you are interested in learning more about the ASH1L gene and related conditions, the following resources may be helpful:

  • OMIM: OMIM is a database that provides information on the relationship between genes and genetic disorders. You can find information on ASH1L-related conditions, changes in the ASH1L gene, and the phenotypic spectrum of disorders related to ASH1L.
  • PubMed: PubMed is a database of scientific articles. Searching for “ASH1L gene” will provide you with a list of articles related to the gene, its function, and its regulation.
  • Genetic Testing: Various health databases and genetic testing companies offer tests for variants in the ASH1L gene. They can provide more specific information on the role of ASH1L in disorders such as autism and other related conditions. Some testing companies offer tests that include other genes along with ASH1L, so additional information about related genes may be available as well.
  • The Autism Genetic Resource Exchange (AGRE) Registry: If you are interested in the relationship between ASH1L and autism, the AGRE Registry is a valuable resource. It collects data on families affected by autism and provides information on genetic and environmental factors associated with the disorder.
  • Catalog of Genes and Diseases: This catalog includes information on genes and their associated disorders. It provides a comprehensive list of genes and diseases related to them, including the ASH1L gene. You can search the catalog for more information on ASH1L and related conditions.

Tests Listed in the Genetic Testing Registry

The ASH1L gene is associated with various genetic conditions, including autism spectrum disorder and other health conditions. To identify genetic changes in this gene and related genes, several tests listed in the Genetic Testing Registry can be used.

Genetic testing can provide valuable information about an individual’s genetic makeup and help diagnose or predict certain diseases or disorders. Here are some tests listed in the registry that are related to the ASH1L gene:

  • Variant-specific tests: These tests focus on specific variants or mutations in the ASH1L gene and can provide information about their association with autism spectrum disorder and other conditions.
  • Methylation analysis: Methylation is a process that regulates gene expression, and abnormalities in methylation patterns can be associated with certain diseases. Methylation analysis can identify changes in the methylation patterns of the ASH1L gene.
  • Genome-wide methylation profiling: This test examines methylation patterns across the entire genome to identify changes that may be associated with autism spectrum disorder and other conditions. It can provide a broader overview of methylation abnormalities beyond the ASH1L gene.

These are just a few examples of the tests available for studying the ASH1L gene and its role in various diseases. Depending on the specific research or clinical question, additional tests and methods may be used to gather more information.

The Genetic Testing Registry is a scientific resource that compiles information on genetic tests and the genes they target. It provides detailed information on the tests, including their purpose, methodology, and associated conditions. Researchers and healthcare professionals can refer to this registry for references on the tests listed above as well as many others.

Other databases and resources, such as PubMed, OMIM, and gene catalogs, also provide valuable genetic information on the ASH1L gene and related genes. Scientific publications and studies can be found on PubMed, while OMIM and gene catalogs offer comprehensive information on genetic disorders and associated genes.

In conclusion, the Genetic Testing Registry and other related resources offer various tests and databases that can be used to study the ASH1L gene and its association with autism spectrum disorder and other conditions. These tests provide valuable insights into the genetic changes and abnormalities in genes, such as those involved in histone-lysine methyltransferases regulation, and contribute to our understanding of the underlying causes of diseases.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the ASH1L gene and its related genetic changes, including histone-lysine methylation and spectrum disorders.

PubMed is a widely used database for accessing scientific articles related to health and genetic research. It catalogs references from various journals and other scientific sources.

This gene, known as ASH1L, regulates the methylation of histone-lysine residues, which is important for the regulation of gene expression. Changes in ASH1L and other genes involved in histone methylation have been linked to various diseases and conditions.

In addition, PubMed lists articles related to genetic testing for the ASH1L gene and provides resources for additional testing if necessary. This information can be invaluable for researchers, healthcare professionals, and individuals seeking to understand the impact of genetic changes in this gene.

See Also:  Craniometaphyseal dysplasia

One of the conditions associated with ASH1L gene changes is autism spectrum disorder (ASD). Numerous articles on PubMed explore the relationship between ASD and ASH1L, as well as other genes involved in histone methylation.

OMIM, the Online Mendelian Inheritance in Man database, offers a comprehensive catalog of genetic disorders and associated genes, including ASH1L. It provides valuable resources for researchers and healthcare professionals seeking more information on this gene and its related disorders.

In summary, scientific articles on PubMed provide a wealth of information on the ASH1L gene, its genetic changes, and the spectrum of diseases and conditions associated with them. Researchers and healthcare professionals can utilize these resources to deepen their understanding of this gene and its implications for health and disease.

Catalog of Genes and Diseases from OMIM

The ASH1L gene is a member of the ASH1 family of histone-lysine methyltransferases, which regulate gene expression by adding methyl groups to specific sites on histone proteins. Mutations in the ASH1L gene have been associated with a spectrum of disorders, including autism spectrum disorder, intellectual disability, and developmental delay.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that catalogs information about genes and genetic disorders. It provides a curated collection of scientific articles, resources, and references related to genes and the diseases they are associated with.

In the catalog, you can find information about the ASH1L gene, including its function, genetic variants, and changes associated with different diseases. The catalog also lists other genes that are known to be involved in the regulation of histone methylation and gene expression.

For each gene and disorder listed in the catalog, you can find links to additional resources, such as testing laboratories or genetic registries, where you can find more information or request genetic testing. OMIM also provides links to PubMed articles and scientific references for further reading.

By using the OMIM catalog, scientists, researchers, and healthcare professionals can access a wealth of genetic and health information, making it a valuable tool for understanding the genetic basis of diseases and developing targeted treatments.

Key Features of OMIM Catalog:
Feature Description
Genes and Disorders A comprehensive list of genes and their associated diseases
Genetic Variants Information on genetic changes and variants associated with diseases
Testing Resources Links to laboratories and testing facilities for genetic testing
Scientific References List of PubMed articles and scientific references for further reading
Genetic Registries Registry information for specific genetic disorders

The OMIM catalog serves as a valuable resource for researchers, clinicians, and individuals seeking information on genes and genetic diseases. Whether you are studying the ASH1L gene or exploring other genetic disorders, OMIM provides a comprehensive and reliable source of knowledge.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers studying genes and genetic disorders. These databases provide information on a wide range of genes, including the ASH1L gene, which is of particular interest due to its involvement in histone-lysine N-methyltransferase activity.

Gene databases contain detailed information about genes, including their names, aliases, chromosomal locations, and functions. They also provide data on the associated phenotypes and disorders caused by mutations in these genes. Researchers can access information on the ASH1L gene and its related disorders from these databases.

Variant databases, on the other hand, catalog the different genetic changes or variants identified in specific genes. These databases contain information about the different types of variants, such as single nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations. Researchers can use these databases to find specific variants in the ASH1L gene and their association with diseases or conditions.

One well-known gene and variant database is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genes and genetic disorders, including the ASH1L gene. It offers a detailed catalogue of gene and variant information, as well as scientific articles and references related to these genes.

In addition to OMIM, there are other databases available for gene and variant information. These resources include public databases like PubMed and the Genetic Testing Registry (GTR). PubMed provides a vast collection of scientific articles and references related to genes, variants, and genetic disorders. GTR, on the other hand, focuses specifically on genetic testing information, including the tests available for different genes and disorders.

Researchers can use these gene and variant databases to gather valuable information on the ASH1L gene and its associated disorders, as well as to explore the broader spectrum of genes and genetic changes related to autism and other diseases. These databases serve as crucial references for genetic research and testing, providing researchers with access to up-to-date and accurate information.

References

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