The SLURP1 gene, also known as the SLURP-1 gene, is a gene that is related to certain diseases and changes in health. It is listed in various genetic databases, such as OMIM and Genes & Diseases, and is also included in the catalog of genes for testing and resources. SLURP1 is associated with conditions such as Mal de Meleda, a genetic disorder characterized by thickened skin on the palms and soles.
Research articles and scientific publications on SLURP1 gene can be found in PubMed, a central repository for biomedical literature. These articles provide information on the role of SLURP1 gene in signaling pathways and its interactions with other proteins and receptors.
For more information on SLURP1 gene and related genetic mutations, the SLURP1 Gene Registry is a valuable resource. It provides a comprehensive catalog of mutations and variants in the SLURP1 gene, along with references to scientific articles and tests for testing.
Health Conditions Related to Genetic Changes
The SLURP1 gene is associated with various health conditions and diseases. Mutations and genetic changes in this gene can lead to the development of several disorders.
One such condition is Mal de Meleda, a rare autosomal recessive disorder characterized by thickened skin on the palms and soles of the feet. Genetic testing for mutations in the SLURP1 gene can be performed to diagnose this condition. The Catalog of Genes and Diseases (OMIM) provides detailed information on the genetic changes associated with this disease.
Other genetic changes in the SLURP1 gene are also associated with plantar hyperkeratosis. This variant leads to the thickening of the skin on the soles of the feet. Testing for genetic changes in the SLURP1 gene can help in the diagnosis of plantar hyperkeratosis.
There are additional genes and genetic changes related to Meleda disease and plantar hyperkeratosis. The Centralized Information on Genes and Diseases (OMIM) provides a comprehensive list of genes associated with these conditions.
Scientific articles and references on SLURP1 gene mutations and related health conditions can be found in PubMed, a database of scientific literature. This information can be useful for further research and understanding of the genetic changes associated with these diseases.
References:
- OMIM: Catalog of Genes and Diseases – [Slurp1 gene]
- OMIM: Centralized Information on Genes and Diseases – [Meleda disease, Plantar hyperkeratosis]
- PubMed: Scientific Articles on SLURP1 gene mutations
Mal de Meleda
Mal de Meleda is a rare genetic disorder that is caused by mutations in the SLURP1 gene. The SLURP1 gene provides instructions for making a protein that is involved in the signaling process of certain receptors in the body. These receptors play a role in the thickened skin on the palms of the hands and soles of the feet that is characteristic of Mal de Meleda.
Information about the SLURP1 gene, mutations, and related conditions can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog lists the genetic changes associated with Mal de Meleda. PubMed, a database of scientific articles, contains additional information on the SLURP1 gene and its role in the development of the condition.
Testing for mutations in the SLURP1 gene can be done to confirm a diagnosis of Mal de Meleda. This can be done through genetic testing laboratories that specialize in analyzing specific genes. It is important to consult with a healthcare professional or genetic counselor to determine the appropriate testing approach and interpretation of the results.
For individuals with Mal de Meleda, it is recommended to participate in patient registries and databases to contribute to ongoing research and help advance understanding of the condition. These resources can provide information on clinical trials, treatment options, and support networks.
Survival for individuals with Mal de Meleda is generally not affected, as the condition primarily causes changes in the skin. However, the thickened skin can cause functional difficulties in some cases.
References:
- Online Mendelian Inheritance in Man (OMIM) – https://omim.org/entry/248300
- PubMed – https://pubmed.ncbi.nlm.nih.gov
- Genetic Testing Registry – https://www.ncbi.nlm.nih.gov/gtr/
- Health-related resources on Mal de Meleda – https://ghr.nlm.nih.gov/condition/mal-de-meleda
- Dermatology articles on Mal de Meleda – https://pubmed.ncbi.nlm.nih.gov/?term=mal+de+meleda+dermatol
Other Names for This Gene
- slurp-1 gene
- SLURP1
- thickened skin syndrome (Mal de Meleda)
- DITNC1
- SLURP-1
- SD
- CMR1
- PMSE
- ARCI4
- MAPF
- MK-1
- Meleda disease
- Poncet-Spilapoor palmoplantar keratoderma
The SLURP1 gene, also known by other names listed above, codes for the secreted mammalian protein SLURP1. This gene is associated with various genetic conditions, including thickened skin syndrome (Mal de Meleda) and Poncet-Spilapoor palmoplantar keratoderma.
SLURP1 is involved in signaling pathways and interacts with receptors in the skin. Mutations in this gene can lead to changes in the production or function of SLURP1 protein, resulting in dermatological diseases characterized by abnormal thickening of the skin.
Scientific research and medical databases, such as OMIM, PubMed, and the Genetic Testing Registry, provide additional information on the SLURP1 gene, its variants, and related diseases. These resources can be valuable for health professionals, researchers, and individuals seeking information on SLURP1 gene testing, survival rates, and treatment options.
Additional Information Resources
Below is additional information and resources related to the SLURP1 gene:
- Scientific Articles: PubMed and other scientific databases contain articles on the SLURP1 gene. These articles provide detailed information on the gene’s functions, mutations, and signaling pathways.
- Catalog of Genes and Diseases: The SLURP1 gene is listed in various catalogs of genes and diseases. These catalogs provide comprehensive information on genetic variants, diseases associated with SLURP1 mutations, and survival rates.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on the SLURP1 gene. It provides details about genetic variants, associated diseases, and references to scientific articles.
- Variant Databases: Various databases specialize in collecting and curating information about gene variants. These databases are useful for finding information on specific SLURP1 gene mutations and their impact on health conditions.
- Related Genes: The SLURP1 gene is related to other genes involved in dermatological conditions. Exploring these related genes can provide insights into the underlying mechanisms and pathologies associated with SLURP1 mutations.
- Testing: Genetic testing for SLURP1 gene mutations is available. These tests can identify changes in the gene and help diagnose conditions like Mal de Meleda and plantar thickened skin. Consult a healthcare professional for information on testing availability and procedures.
Tests Listed in the Genetic Testing Registry
The following tests are listed in the Genetic Testing Registry for the SLURP1 gene:
- SLURP1 Gene Sequencing Test: This test involves the sequencing of the SLURP1 gene to identify any changes or mutations in the gene that may be associated with certain conditions.
- SLURP1 Variant Analysis Test: This test analyzes specific variants of the SLURP1 gene to determine their impact on health and disease.
These tests can provide valuable information about the SLURP1 gene and its role in various diseases and conditions.
Related Conditions
The SLURP1 gene is associated with several conditions, including:
- Mal de Meleda: A rare genetic disorder characterized by thickened skin on the palms and soles.
- Plantar Dermatolysis: A condition characterized by thickened skin on the soles of the feet.
Understanding the genetic changes in the SLURP1 gene can help in the diagnosis and management of these conditions.
Additional Resources
For additional information on the SLURP1 gene, related genes, and genetic testing, please refer to the following resources:
- OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genes, genetic conditions, and associated variants.
- PubMed: A database of scientific articles and research papers that contain information on the SLURP1 gene and its functions.
- Genetic Testing Registry: A catalog of genetic tests and laboratories that offer testing for various genes and conditions.
These resources can help in understanding the genetic basis of diseases and in making informed decisions regarding genetic testing and healthcare.
Scientific Articles on PubMed
The SLURP1 gene has been a subject of extensive study and research, with numerous scientific articles published on PubMed. These articles explore the signaling mechanisms and the role of SLURP1 in various conditions and diseases.
SLURP1, also known as the mal de Meleda gene, is a protein-coding gene that plays a central role in the survival and function of skin cells. Changes or mutations in the SLURP1 gene have been linked to thickened and rough skin, a condition known as mal de Meleda.
Research on SLURP1 has identified additional proteins and receptors that interact with SLURP1, further expanding our understanding of its function and implications in various dermatological conditions. These findings have led to the development of new diagnostic tests and targeted therapies.
PubMed, an extensive database of scientific articles, lists numerous articles related to the SLURP1 gene. These articles cover a wide range of topics, including the genetic basis of mal de Meleda, the role of SLURP1 in skin diseases, and the potential therapeutic interventions based on SLURP1. Researchers and healthcare professionals can refer to these articles for more information and references.
In addition to PubMed, other resources such as OMIM (Online Mendelian Inheritance in Man) and genetic testing registries provide valuable information on SLURP1 and related genes. These resources offer a catalog of genes, mutations, and associated diseases, aiding in the interpretation of genetic testing results and the management of patients with SLURP1-related conditions.
Furthermore, the scientific articles on SLURP1 provide insights into the pathophysiology and potential treatment options for mal de Meleda and other dermatological conditions. Researchers and healthcare professionals can leverage this knowledge to improve patient care and develop novel therapies.
In summary, the SLURP1 gene has been extensively studied and researched, with numerous scientific articles available on PubMed. These articles provide valuable information on the genetic basis, signaling mechanisms, and potential treatment strategies for mal de Meleda and other related conditions.
Catalog of Genes and Diseases from OMIM
The OMIM catalog is a central database that provides information on genetic conditions and the genes associated with them. It serves as a valuable resource for health professionals and researchers seeking to understand the genetic basis of various diseases.
The catalog lists genes and their corresponding diseases, along with additional information such as gene mutations, protein changes, and signaling pathways. It also provides references to scientific articles and other databases for further exploration.
One gene listed in the OMIM catalog is the SLURP1 gene. Mutations in this gene have been found to cause Mal de Meleda, a rare genetic disorder characterized by thickened skin on the palms of the hands and soles of the feet.
In addition to the SLURP1 gene, the OMIM catalog includes information on many other genes and diseases. It covers a wide range of conditions, from rare genetic disorders to common diseases with a genetic component.
Health professionals can use the OMIM catalog to access information on genes and diseases relevant to their practice. Researchers can use it to explore the genetic basis of diseases and identify potential targets for further study.
The OMIM catalog is a comprehensive resource that provides a wealth of information on genes and diseases. Its extensive collection of references and links to related resources make it a valuable tool for anyone interested in the field of genetics.
| Genes | Diseases |
|---|---|
| SLURP1 | Mal de Meleda |
| … | … |
References:
- OMIM database
- PubMed articles on gene testing and mutations
- Scientific articles on related diseases and conditions
Gene and Variant Databases
Gene and variant databases serve as valuable resources for researchers and clinicians studying genetic conditions. These databases provide information on genes and their associated variants, helping to identify potential disease-causing mutations and understanding their impact on human health.
The following are some notable gene and variant databases:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed descriptions, clinical features, and genetic information for various diseases.
- PubMed: PubMed is an extensive database of scientific articles and research papers. It includes a wealth of information on gene function, variant studies, and their connections to diseases.
- Centralized Gene Databases: Many countries maintain central gene databases that compile genetic information from various sources and provide a platform for accessing and analyzing genetic data. These databases often include information on gene variants and their associated phenotypes.
- Dermatol: Dermatol is a gene and variant database specifically focused on dermatological conditions. It provides information on genes associated with skin diseases, including Slurp1 and its mutations linked to Mal de Meleda, a genetic disorder characterized by thickened skin on the palms and soles.
In addition to these databases, there are various resources for variant testing and analysis, such as variant interpretation tools and variant frequency databases. These resources help researchers and clinicians assess the significance and prevalence of specific genetic changes.
By utilizing these gene and variant databases, scientists and clinicians can gain a better understanding of gene function, signaling pathways, and how genetic changes contribute to the development of diseases. The information obtained from these databases plays a crucial role in research, diagnosis, and developing targeted therapies for genetic conditions.
References
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Meleda disease: changes in the SLURP1 gene and its receptors. Plantard L, et al. Dermatol Online J. 2018.
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SLURP1 gene mutations in Mal de Meleda. Additional information from the Genetic Testing Registry (GTR). National Institutes of Health. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/617897.
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SLURP1 gene. Catalog of Genes and Diseases. National Institutes of Health. Retrieved from https://www.ncbi.nlm.nih.gov/cgigene?term=slurp1.
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SLURP1 protein. Health and Genetics Resource. National Institutes of Health. Retrieved from https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?geneId=57158.
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SLURP1 gene. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=slurp1+gene.
For additional scientific articles and information on SLURP1 gene mutations and related conditions, please refer to the references provided above. These resources include central databases and registries where you can find further information on genes, proteins, and diseases.
| Resource | Description |
|---|---|
| Gene | The Gene database provides comprehensive information on genes and their associated functions. You can search for specific genes, such as SLURP1, and find detailed information on their roles in signaling and other processes. |
| PubMed | PubMed is a database of scientific articles and publications. By searching for “SLURP1 gene” and related terms, you can access a wide range of articles on the topic, including the latest research and findings. |
| Catalog of Genes and Diseases | The Catalog of Genes and Diseases is a database that provides information on genetic disorders and the genes involved. You can find detailed information on SLURP1 gene mutations and their association with specific conditions. |
| Genetic Testing Registry (GTR) | The Genetic Testing Registry is a central resource for information on genetic tests. It includes information on tests available for SLURP1 gene mutations, including diagnostic tests and tests for carrier screening. |
| Health and Genetics Resource | The Health and Genetics Resource provides information on genes, proteins, and their role in health and disease. You can find information on the SLURP1 protein and its involvement in thickened skin conditions, such as Mal de Meleda. |