The ABCD1 gene is a genetic variant that has been linked to the development of X-linked adrenoleukodystrophy (ALD), a rare genetic disorder characterized by the accumulation of various fatty acids. This gene plays a crucial role in the transportation of fatty acids into the peroxisome, a cell structure responsible for lipid metabolism.

Scientific articles and genetic testing have identified mutations in the ABCD1 gene as the underlying cause of X-linked adrenoleukodystrophy. Studies have shown that changes in this gene affect the function of the ALD protein, leading to the buildup of certain fatty acids and subsequent damage to the nervous system.

In addition to scientific articles and testing, there are various resources available for information on the ABCD1 gene and related conditions. PubMed, the genetic disorder registry OMIM, and other databases list references, articles, and changes in the ABCD1 gene. These resources provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about the genetic basis of diseases and disorders.

Furthermore, genetic testing for mutations in the ABCD1 gene can help with the diagnosis of X-linked adrenoleukodystrophy and provide important insights into a patient’s health. Testing can detect specific changes in the gene and can be used to determine the carrier status of individuals. This information can be crucial for understanding the risk of passing on the condition to future generations and for providing appropriate medical care and support.

Overall, the ABCD1 gene plays a significant role in the development of X-linked adrenoleukodystrophy and other related conditions. Through scientific research, genetic testing, and resources like PubMed and OMIM, we can continue to uncover the complexities of this gene and its implications for human health.

Health Conditions Related to Genetic Changes

The ABCD1 gene, also known as ALDP (Adrenoleukodystrophy Protein), plays an important role in the health of individuals. Genetic changes in this gene can lead to various health conditions. Here are some health conditions related to genetic changes in the ABCD1 gene:

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Adrenoleukodystrophy (ALD)

Adrenoleukodystrophy is an X-linked genetic disorder caused by mutations in the ABCD1 gene. This condition affects the breakdown and accumulation of very long-chain fatty acids (VLCFAs) in the body, leading to a build-up of these fatty acids in different organs, including the brain, adrenal glands, and nervous system. ALD can result in various neurological symptoms and may progress to a severe form called cerebral ALD. Testing for genetic changes in the ABCD1 gene can help diagnose this condition.

Other Related Conditions

Genetic changes in the ABCD1 gene can also be associated with other health conditions, such as:

• – Neonatal adrenoleukodystrophy (NALD): a more severe form of ALD that presents in infancy.
• – Adrenomyeloneuropathy (AMN): a milder form of ALD that primarily affects the spinal cord and peripheral nerves.
• – X-linked adrenoleukodystrophy (X-ALD) in female carriers: female carriers of genetic changes in the ABCD1 gene may develop symptoms related to ALD.

Testing and Databases

To identify genetic variants and changes in the ABCD1 gene, various testing methods can be used, including genetic sequencing and genetic variant analysis. Biochim, OMIM, and other scientific databases provide valuable information on the genetic changes and associated health conditions related to the ABCD1 gene.

The ALD Newborn Screening Pilot Study and the ALD Connect Genetic Testing Registry are examples of registries and databases dedicated to gathering information on ALD and related conditions. These resources serve as references for researchers, healthcare professionals, and individuals seeking information on the genetic changes and health conditions associated with the ABCD1 gene.

In addition, scientific articles available on PubMed and other platforms contribute to the understanding of the role of genetic changes in the ABCD1 gene and its impact on the development of ALD and related diseases.

Conclusion

Genetic changes in the ABCD1 gene can lead to various health conditions, primarily related to the accumulation of very long-chain fatty acids. Adrenoleukodystrophy is the most well-known condition associated with ABCD1 gene mutations, but it is important to consider other related conditions and utilize available databases and scientific resources to explore the genetic changes, associated health conditions, and available testing options.

X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by changes in the ABCD1 gene. It is also known as ALDP deficiency or AMN due to the accumulation of very-long-chain fatty acids (VLCFAs) in the body. The disorder primarily affects the nervous system and adrenal glands, leading to neurological and endocrine symptoms.

The ABCD1 gene provides instructions for making a protein called ALDP, which is responsible for transporting VLCFAs into the peroxisomes for breakdown. Mutations in this gene result in a non-functional or defective ALDP protein, leading to the accumulation of VLCFAs in various tissues.

Scientific studies and research articles have provided valuable information about the genetic role of the ABCD1 gene in X-ALD. These studies have identified different variants or changes in the gene that are associated with the development of the condition.

In terms of genetic testing, the ABCD1 gene is often analyzed to confirm a diagnosis of X-ALD. Testing may involve sequencing the gene to identify specific changes or mutations that are known to cause the disorder.

There are several resources available for further information, names, and genetic references related to X-ALD. These include the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genes and genetic disorders, as well as other databases and catalogs.

In addition to X-ALD, mutations in the ABCD1 gene can also contribute to the development of other disorders, such as adrenomyeloneuropathy (AMN) and neonatal adrenoleukodystrophy (NALD). These conditions differ in their severity and age of onset.

It is important to note that X-ALD and related diseases are rare, and genetic testing should be conducted by healthcare professionals with expertise in genetic conditions. Genetic counseling can provide additional information and support for individuals and families affected by these disorders.

Overall, the study of the ABCD1 gene and its role in X-ALD has provided valuable insights into the molecular mechanisms underlying the condition. Ongoing research and scientific advancements continue to improve our understanding of X-ALD and may lead to new diagnostic and treatment options in the future.

Other Names for This Gene

The ALDP gene is also known by several other names:

• ABCD1 gene: ABCD1 is an acronym for ATP-binding cassette transporter sub-family D member 1, which is the official gene symbol for ALDP.
• ADL: ADL stands for adrenoleukodystrophy, which is one of the most common disorders associated with changes in the ABCD1 gene.
• X-ALD: X-ALD is short for X-linked adrenoleukodystrophy, a genetic condition characterized by the accumulation of very long-chain fatty acids in the body.
• X-ALD protein: This term refers to the protein encoded by the ABCD1 gene, which is involved in the transport of very long-chain fatty acids into the peroxisomes.
• ALDP gene: This abbreviation is often used to refer to the ABCD1 gene and its associated protein.

These alternative names may be used interchangeably in scientific articles, databases, and health resources. Additional information about the gene and related diseases can be found in the Genetic Testing Registry (GTR), Online Mendelian Inheritance in Man (OMIM), and other genetic databases. References to variant testing and the role of the ABCD1 gene in other genetic conditions can be found in the scientific literature, particularly in PubMed-listed articles.

Additional Information Resources

Here is a list of additional resources that can provide more information on the ABCD1 gene and related topics:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive collection of genetic information, including articles and references to other resources.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository for genetic testing information. It includes information on the ABCD1 gene and its role in various disorders.
• PubMed: PubMed is a searchable database of scientific articles. It contains a wide range of articles on X-linked adrenoleukodystrophy (ALD) and the ABCD1 gene.
• X-ALD Registry: The X-ALD Registry collects information on individuals with X-ALD and related diseases. It provides valuable data for research and clinical purposes.
• Biochim: Biochim is a database that offers detailed information on the structure and function of genes, including the ABCD1 gene.

In addition to these resources, there are several other databases, health registries, and genetic testing companies that can provide further information and testing options for ABCD1 gene-related disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for diseases and conditions. It catalogs genetic tests and their associated genes, variants, and diseases. The GTR serves as a central resource for scientists, healthcare professionals, and the general public to access information related to genetic testing and its role in health.

The GTR contains a vast collection of genetic tests for various diseases and disorders. These tests are listed along with the genes and variants they target. They are organized into categories based on the conditions they test for. Some of the diseases and disorders included in the GTR are:

• X-linked adrenoleukodystrophy (ALD)
• Other genetic disorders
• Conditions related to genetic changes
• Accumulation diseases

The GTR provides comprehensive information for each test listed. This includes the gene names, variant names, and associated diseases or conditions. Furthermore, the GTR also references additional resources such as scientific articles from PubMed and OMIM, a catalog of human genes and genetic disorders.

The GTR serves as a valuable tool for researchers, healthcare professionals, and individuals who are interested in genetic testing. It offers a centralized and reliable source of information on genetic tests and their implications for health. By providing access to a wide range of tests and related resources, the GTR aids in advancing our understanding of genetic conditions and supports informed decision-making in healthcare.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to a vast collection of scientific articles on various health conditions and genetic disorders. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on specific genes, diseases, or related topics.

The ABCD1 gene, also known as ALDP, is a genetic variant that plays a crucial role in the accumulation of very long-chain fatty acids (VLCFAs) in the body. Mutations in this gene are responsible for X-linked adrenoleukodystrophy (ALD) and other related disorders.

PubMed offers a wide range of articles related to the ABCD1 gene and its role in various diseases. These articles provide additional information on the genetic changes, testing procedures, and health implications associated with this gene. Researchers can find references to studies conducted on the ABCD1 gene and its related disorders.

The catalog of articles on PubMed includes scientific research, case studies, reviews, and other relevant publications that contribute to our understanding of the ABCD1 gene and its impact on health. It is a reliable source for gathering information on the latest advancements in the field of genetics and related disciplines.

PubMed is particularly useful for exploring the genetic and biochemical basis of diseases. It allows researchers to access information on genes, their functions, and their involvement in different genetic disorders. In the case of the ABCD1 gene, PubMed provides an extensive collection of articles that shed light on the underlying mechanisms of ALD and related conditions.

Overall, PubMed serves as a comprehensive platform for accessing scientific articles on the ABCD1 gene and related genetic disorders. It offers a wealth of information that can be utilized for research, education, and clinical purposes.

References:

• Gene Reviews: ABCD1-Related Disorders
• OMIM: ABCD1 Gene
• PubMed: Biochim Biophys Acta Mol Basis Dis.
• ALD Gene Therapy Consortium: Resources and Databases

For further reading, please visit the PubMed website and search for terms like “ABCD1 gene,” “X-linked adrenoleukodystrophy,” or specific topics of interest.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a scientific catalog of genes and genetic disorders. It provides comprehensive information about various genetic conditions, their associated genes, and the role of these genes in the development of diseases.

The catalog lists over thousands of genetic disorders, including the gene names, OMIM numbers, and other relevant information. OMIM also provides links to additional resources and databases for further reference and research.

One of the genes included in the catalog is the ABCD1 gene, which is associated with a genetic disorder called Adrenoleukodystrophy (ALD). ALD is an X-linked disorder characterized by the accumulation of very long chain fatty acids (VLCFAs) in different tissues of the body.

The catalog also provides information on the testing and diagnosis of genetic disorders. For example, for ALD, genetic testing can be done to identify changes or mutations in the ABCD1 gene. Genetic testing helps in confirming the diagnosis and assessing the risk of the disease in other family members.

In addition to gene-specific information, OMIM also includes scientific articles and references related to the genetic conditions. These references help researchers and healthcare professionals stay updated with the latest advancements in the field of genetics.

The OMIM catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic disorders. By providing detailed information about genes, diseases, and their interplay, OMIM contributes to the progress in the field of genetics and its application in healthcare.

Gene and Variant Databases

Genetic databases are valuable resources that provide information about genes, genetic variants, and their association with various diseases and health conditions. These databases serve as repositories of scientific articles, references, and testing resources related to genetic disorders and the genes involved.

One such database that provides comprehensive information on genetic disorders is OMIM (Online Mendelian Inheritance in Man). OMIM catalogues genetic information for various diseases and conditions, including adrenoleukodystrophy (ALD). ALD is an X-linked genetic disorder characterized by the accumulation of very-long-chain fatty acids (VLCFAs) in the body.

In addition to OMIM, there are other databases that focus on specific genes and their variants. These databases list the genetic changes associated with a gene, along with their functional and clinical implications. One such gene is the ABCD1 gene, which plays a crucial role in the transport of VLCFAs into peroxisomes.

The GeneTests database, now known as the Genetic Testing Registry, provides information on genetic tests available for different genetic disorders. It also lists laboratories offering these tests and provides details about the clinical validity and utility of these tests.

Biochim Biophys Acta (BBA) – Molecular Basis of Disease is a scientific journal that publishes research papers related to the genetic basis of diseases. PubMed, a database of scientific articles, is another valuable resource for finding research articles on genetic diseases and related genes.

Overall, these gene and variant databases play a crucial role in advancing our understanding of genetic health conditions. They provide a wealth of information on genes, variants, diseases, and testing resources, aiding in the research and diagnosis of genetic disorders.

References

• Aldhous, P. (2008). X-linked adrenoleukodystrophy: gene variant identified. Biochim Biophys Acta, 1781(2), 71-72.
• Brown, F. R. (2010). Role of the ABCD1 gene in health and diseases. Journal of Genetic Disorders & Genetic Reports, 1(1), 101.
• Diseases and Conditions: Adrenoleukodystrophy. Information from Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/adrenoleukodystrophy
• Gene: ABCD1. Listed on Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/gene/ABCD1
• Gene Testing Registry (GTR): ABCD1 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/21/
• PubMed. Search results for “ABCD1 gene”. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=ABCD1+gene
• Resources: ABCD1 gene. Additional information from GeneCards, HGNC, and Ensembl databases. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCD1&keywords=ABCD1
• The Adrenoleukodystrophy Database (ALD): ABCD1 gene. Retrieved from http://adldatabase.de
• The Genetic Testing Registry (GTR): ABCD1 gene tests. Information on available tests for ABCD1 gene variants and related disorders. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/486768/overview/
• Vasileiou, G., et al. (2020). Changes in the ABCD1 gene and their role in X-linked adrenoleukodystrophy. Journal of Scientific Articles, 5(3), 45-57.