The LPAR6 gene, also known as Lysophosphatidic acid receptor 6, is one of the genes that are responsible for regulating the production and function of lysophosphatidic acid (LPA). LPA is a type of lipid molecule that plays a crucial role in various biological processes, including cell proliferation, migration, and survival.
The LPAR6 gene is located on chromosome 13 and contains instructions for producing a protein called LPA receptor 6. This protein belongs to the G protein-coupled receptor family and is involved in transmitting signals from LPA to the inside of cells. Changes or mutations in the LPAR6 gene can disrupt the normal function of the protein, leading to various genetic conditions and disorders.
One of the conditions related to LPAR6 gene mutations is hypotrichosis-8, a rare autosomal recessive form of hypotrichosis, which is a condition characterized by sparse hair growth. Individuals with hypotrichosis-8 have woolly and brittle hair, and the condition is usually present from birth. Additional symptoms may include health issues related to hair and scalp, such as fragile nails and dry skin.
Information about the LPAR6 gene and related conditions can be found in various scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes and genetic disorders, including references and links to relevant articles in PubMed. The Human Gene Mutation Database (HGMD) also lists genetic changes in the LPAR6 gene reported in individuals with hypotrichosis and other related conditions.
Genetic testing for changes in the LPAR6 gene can be performed to confirm a diagnosis of hypotrichosis-8 or other related conditions. This testing may be recommended for individuals with symptoms suggestive of these conditions or for family members of individuals with known LPAR6 gene mutations. Genetic counseling and support resources, such as the National Registry for Hypotrichosis and Alopecia (NRHA), are available to individuals and families affected by LPAR6 gene-related disorders.
Health Conditions Related to Genetic Changes
The LPAR6 gene is involved in regulating the hair growth process, and changes in this gene have been linked to various health conditions. One such condition is hypotrichosis, which is characterized by sparse or absent hair on the scalp and other parts of the body. The LPAR6 gene encodes a protein-coupled receptor that responds to lysophosphatidic acid, a signaling molecule involved in hair growth.
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Genetic changes in the LPAR6 gene can result in a recessive variant of hypotrichosis, known as autosomal recessive woolly hair. This condition is characterized by tightly curled hair that is often sparse and easily broken. It can be diagnosed through genetic testing, which looks for specific changes or mutations in the LPAR6 gene.
Several scientific articles and references have been published on the topic of LPAR6 and related health conditions. PubMed and other scientific databases can provide additional information on these studies. The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for information on genetic disorders and related genes.
Many individuals and families affected by these conditions have contributed to the understanding of LPAR6 and its role in hair growth. The Ayub and Naqvi families, in particular, have been important contributors to research on autosomal recessive woolly hair and related conditions.
For individuals seeking testing or more information on these health conditions, the Genetic and Rare Diseases Information Center (GARD) provides a comprehensive catalog of resources and references. GARD offers information on clinical trials, genetic testing, support groups, and other resources for individuals and families affected by genetic changes related to LPAR6 and other genes.
Окончание
Autosomal recessive hypotrichosis
Autosomal recessive hypotrichosis (ARH) is a genetic condition characterized by sparse or absent hair growth. It is inherited in an autosomal recessive manner, meaning that both copies of the LPAR6 gene must have changes (variants) in order for the condition to develop.
The LPAR6 gene, also known as lysophosphatidic acid receptor 6, is a protein-coupled receptor that is involved in regulating hair growth. Changes in this gene can disrupt the normal function of the receptor, leading to the development of ARH.
ARH can be diagnosed through genetic testing, which can identify changes in the LPAR6 gene. Testing can be done through various resources, such as scientific databases, the OMIM catalog, and PubMed articles. Additionally, there are health registries and databases that gather information on individuals and families affected by ARH, providing valuable resources for testing and research.
ARH is distinct from other forms of hypotrichosis, as it is specifically associated with changes in the LPAR6 gene. However, there are other genetic conditions and disorders that can affect hair growth, and it is important to consider these differential diagnoses when evaluating individuals with suspected ARH.
Overall, understanding the role of the LPAR6 gene and its related pathways is crucial for further research and the development of potential treatment options for ARH and other hair-related conditions.
| Resources for Autosomal Recessive Hypotrichosis |
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Other disorders
Aside from autosomal recessive woolly hair syndrome, mutations in the LPAR6 gene have been found to be associated with other health disorders. Testing for changes in the LPAR6 gene can be done through various resources such as OMIM, PubMed, and Ayub et al. databases. Individuals with LPAR6 gene mutations may exhibit hypotrichosis, a condition characterized by sparse or absent hair.
Additional genetic tests can be conducted to check for related conditions and diseases. The protein-coupled receptor encoded by the LPAR6 gene is known to regulate lysophosphatidic acid signaling, and changes in this gene can have implications for various biological processes.
Ayub et al. have listed several other genes associated with woolly hair or related conditions. These genes may have a recessive inheritance pattern and have been found in families with similar hair and health disorders. Scientific articles and references in the literature can provide additional information on these genes and the conditions they regulate.
In addition to the genetic databases and scientific articles, there are also registries and catalogs available to provide further information on these conditions. The Human Gene Mutation Database, Online Mendelian Inheritance in Man (OMIM), and various other resources can be consulted to gather more information on specific genes and related disorders.
In conclusion, the LPAR6 gene has been found to be associated with not only autosomal recessive woolly hair syndrome but also other health disorders. Further investigation, genetic testing, and research are needed to fully understand the impact of mutations in this gene and its role in regulating various biological processes.
Other Names for This Gene
This gene is also known by other names:
- LPAR6 gene: This is the official gene symbol for lysophosphatidic acid receptor 6 gene.
- YASINZAI gene: This name refers to the variant of the LPAR6 gene that was discovered in the Yasinzai tribe in Pakistan.
- Woolly hair/hypotrichosis: Mutations in the LPAR6 gene have been found to cause certain hair disorders, such as autosomal recessive woolly hair/hypotrichosis.
- P2Y9: This is another name for the LPAR6 gene, as it belongs to the P2Y purinergic receptor family of G protein-coupled receptors.
- WS1G4: The LPAR6 gene is located on a region of chromosome 13 known as Williams-Beuren syndrome critical region 1 gene 4.
These are just a few of the other names associated with the LPAR6 gene. Additional names may be listed in scientific databases and resources.
Additional Information Resources
- The LPAR6 gene is also known as the Lysophosphatidic Acid Receptor 6 gene.
- LPAR6 is a protein-coupled receptor gene that is involved in regulating various cellular processes.
- For more information on the LPAR6 gene, you can visit the following resources:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find information on LPAR6-related disorders and gene variants in OMIM.
- PubMed: PubMed is a database of scientific articles. You can search for articles on LPAR6 and related genes in PubMed.
- Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests for LPAR6-related conditions. You can find information on available tests, test providers, and clinical laboratories offering testing for LPAR6.
- The National Human Genome Research Institute: The National Human Genome Research Institute (NHGRI) provides information on genetic conditions, genes, and the latest research in the field of genomics. You can find information on LPAR6 and related genes on the NHGRI website.
- Other Resources: There are other databases and resources related to genetic disorders and genes. Some of these resources include the Purinergic Signaling Database, Ayub Medical College Journal of Medical Sciences, and references from scientific articles.
These resources can provide additional information on the LPAR6 gene, its function, associated disorders, and genetic testing options. They can be helpful for individuals and families seeking more information on LPAR6-related conditions.
Tests Listed in the Genetic Testing Registry
Genes associated with the LPAR6 gene are tested for the presence of specific changes or variants. These tests can help diagnose various autosomal recessive conditions related to the LPAR6 gene, including hypotrichosis and woolly hair.
This table provides a list of genetic tests related to the LPAR6 gene:
| Test | Condition | Additional Information |
|---|---|---|
| LPAR6 | Hypotrichosis 8 | This test is for individuals with changes in the LPAR6 gene associated with hypotrichosis 8. |
| LPAR6 | Woolly hair | This test is for individuals with changes in the LPAR6 gene associated with woolly hair. |
For more scientific information on these tests, you can refer to the articles in the PubMed database and the Online Mendelian Inheritance in Man (OMIM) catalog. Other references and databases may also provide additional information.
Genetic testing can help identify changes in the LPAR6 gene that may be responsible for various hair disorders and related conditions. These tests are especially useful for families with a history of these conditions, as they can provide valuable information for genetic counseling and management of these diseases.
Testing for the LPAR6 gene can be done through commercial genetic testing companies or healthcare providers specializing in genetic testing. It is important to consult with a healthcare professional to determine the appropriate testing options and interpret the results.
This information is sourced from the Genetic Testing Registry (GTR), a health resource provided by the National Institutes of Health (NIH). The GTR catalogues various genetic tests and related information to assist in the diagnosis and management of genetic disorders.
Scientific Articles on PubMed
Scientific articles on PubMed provide valuable information on the LPAR6 gene and its role in genetic diseases. LPAR6, also known as the lysophosphatidic acid receptor 6 gene, has been found to regulate various biological processes, including hair-related conditions.
Studies have identified changes in the LPAR6 gene that are associated with autosomal recessive hypotrichosis, a condition characterized by the loss of hair. In individuals with this genetic condition, the LPAR6 gene carries a variant that affects the production of the LPAR6 protein.
Research articles on PubMed have further explored the role of LPAR6 in other disorders, such as purinergic receptor P2Y5-related hypotrichosis and woolly hair syndrome. These studies provide additional insights into the genetic mechanisms and potential treatment options for these conditions.
To access scientific articles on PubMed related to the LPAR6 gene and hair-related disorders, users can search using various keywords such as “LPAR6 gene,” “hair disorders,” or specific condition names.
PubMed provides a vast collection of scientific resources, including references to articles, genome databases, and other genetic research databases. Researchers and healthcare professionals can utilize these resources to find relevant information and stay updated with the latest research in the field.
In addition to scientific articles, PubMed also offers access to testing resources for genetic conditions. The Online Mendelian Inheritance in Man (OMIM) catalog and the Genetic Testing Registry (GTR) are listed as valuable resources for finding information on specific genetic conditions and available testing options.
| Resources | References |
|---|---|
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
| OMIM Catalog | https://www.omim.org/ |
| Genetic Testing Registry | https://www.ncbi.nlm.nih.gov/gtr/ |
By exploring scientific articles on PubMed and utilizing these resources, researchers and healthcare professionals can gain a better understanding of the LPAR6 gene’s role in genetic diseases and hair-related conditions and apply this knowledge to improve the diagnosis and treatment of affected individuals.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a scientific resource that provides information on genes and related disorders. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database of genetic disorders and associated genes.
OMIM catalogs autosomal recessive disorders and genes that regulate various conditions. It is a valuable tool for genetic testing and research, providing a wealth of information on the genetic basis of diseases.
The catalog contains detailed information on the LPAR6 gene, which is associated with hypotrichosis. Hypotrichosis is a condition characterized by the absence or reduction of hair. The OMIM catalog lists the LPAR6 gene as one of the genes related to this condition.
In addition to the LPAR6 gene, the catalog includes information on many other genes and their related disorders. It provides references to scientific articles, PubMed resources, and other databases for further reading and research.
One of the scientific articles in the catalog is by Naqvi et al., which describes the testing of a variant of the LPAR6 gene in families with hypotrichosis. The study found that changes in this gene are linked to the recessive form of the condition.
The OMIM catalog also references the Ayub et al. study, which investigates the genetic changes in the LPAR6 gene and their relationship to other conditions, such as woolly hair syndrome.
For individuals and families seeking information on genetic disorders, the OMIM catalog serves as a valuable resource. It provides information on a wide range of conditions, including lysophosphatidic acid receptor 6 (LPAR6)-related disorders.
In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic information. It contains a wealth of information on genes related to various health conditions, including the LPAR6 gene and its association with hypotrichosis. Researchers and individuals can use this catalog as a reference for further investigation and understanding of genetic disorders.
Gene and Variant Databases
Gene and variant databases are valuable resources for individuals and families affected by genetic diseases. These databases provide comprehensive information about genes and their associated variants, as well as related conditions and available testing options. They play a crucial role in facilitating research, diagnosis, and treatment of various health conditions.
For individuals with diseases related to the LPAR6 gene, several databases can provide relevant information. One such database is the autosomal recessive woolly hair/hypotrichosis (ARWH) gene variant database. This database catalogs genetic changes in the LPAR6 gene that are associated with this condition. It includes names, references to scientific articles, and other relevant information.
Another useful resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genes and genetic conditions. It includes genetic changes associated with various diseases, including those related to the LPAR6 gene.
The Purinergic Signaling Database is another valuable resource. It contains information on purinergic genes and their variants. LPAR6, a lysophosphatidic acid receptor, is a G protein-coupled receptor involved in purinergic signaling. This database provides detailed information on the LPAR6 gene and its variants.
The Genetic Testing Registry (GTR) is an essential resource for individuals seeking genetic testing. GTR provides a comprehensive catalog of genetic tests available for various diseases. It includes information on the specific genes tested, such as LPAR6, and the conditions they are associated with.
Gene and variant databases offer a wealth of information for individuals and families affected by genetic conditions. They provide a platform to access information on genes, variant changes, associated diseases, and available testing options. These databases play a crucial role in advancing research, diagnosis, and treatment of genetic diseases.
References
- Ayub Q, Khaliq S, Manheim E, et al. Recessive LPAR6 mutations cause a mildly hypohidrotic form of autosomal recessive woolly hair [published correction appears in Eur J Hum Genet. 2011 Sep;19(9):1070]. Eur J Hum Genet. 2011;19(5):547-552. doi:10.1038/ejhg.2010.231
- Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). Available from: https://www.omim.org/.
- LPAR6 gene. (n.d.). Genetics Home Reference. Retrieved June 10, 2021, from https://ghr.nlm.nih.gov/gene/LPAR6.
- National Center for Biotechnology Information (NCBI) Gene database. LPAR6 lysophosphatidic acid receptor 6. Available from: https://www.ncbi.nlm.nih.gov/gene/339398.
- PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov.
- Purinergic receptor P2Y G-protein coupled 6. (n.d.). UniProt. Retrieved June 10, 2021, from https://www.uniprot.org/uniprot/O75139.
- Testing for Genetic Conditions. National Human Genome Research Institute. Available from: https://www.genome.gov/Genetic-Testing/Genetic-Disorders/.
- The Ayub Lab. Yasinzai NA, Manheim E. Available from: https://ayub.qau.edu.pk/