REEP1 gene
The REEP1 gene, also known as SPG31, is associated with hereditary spastic paraplegia (HSP), a condition characterized by progressive weakness and stiffness in the legs. This gene provides instructions for producing a protein that is involved in maintaining the structure and function of nerve cells.
Research on the REEP1 gene has identified various changes, or variants, that can lead to the development of HSP. These variants can result in the production of an abnormal protein or a reduced amount of the protein. As a result, the normal function of nerve cells, particularly those involved in motor control, is impaired.
Testing for variants in the REEP1 gene can be done through genetic testing. A genetic test can help diagnose HSP and determine the specific variant causing the condition. Additionally, genetic testing can provide information on the inheritance pattern of HSP within a family, which can be useful for family planning and genetic counseling.
There are currently more than 30 genes associated with HSP, and REEP1 is one of them. These genes encode proteins that are involved in a variety of cellular processes, including the transport of materials within nerve cells. Changes in any of these genes can result in the development of HSP.
For additional information on the REEP1 gene and related conditions, resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed Central can be consulted. These databases provide references to scientific articles and other sources of information on genetic conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the REEP1 gene can lead to various health conditions and diseases. The REEP1 gene is associated with distal hereditary motor neuropathy type V (dHMN-V) and spastic paraplegia type 31 (SPG31).
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Distal hereditary motor neuropathy type V (dHMN-V) is a condition that affects the motor nerves in the arms and legs. It is characterized by muscle weakness and atrophy, as well as problems with movement and coordination. Genetic changes in the REEP1 gene can cause dHMN-V.
Spastic paraplegia type 31 (SPG31) is a type of hereditary spastic paraplegia, which is characterized by progressive weakness and stiffness in the legs. People with SPG31 may have difficulty walking and may require the use of mobility aids. Genetic changes in the REEP1 gene can cause SPG31.
Additional information on these conditions and related health resources can be found in scientific articles and databases. References and articles on REEP1-related health conditions can be found in databases such as PubMed, OMIM, and the REEP1 GeneReviews. The PLOS ONE journal also publishes articles related to REEP1 and its associated health conditions.
Testing for genetic changes in the REEP1 gene can be done through genetic tests and molecular analyses. These tests can identify specific genetic variants or changes in the gene that may be associated with the development of dHMN-V or SPG31. Genetic testing can provide important information for diagnosis, treatment, and management of these conditions.
The REEP1 gene is part of a group of genes called receptor expression enhancing proteins (REEPs). These genes play a role in the development and function of the nervous system, particularly in the maintenance and organization of nerve cells. Changes in the REEP1 gene can disrupt the normal functioning of the nerve cells and result in the health conditions mentioned above.
It is important for individuals with symptoms of dHMN-V, SPG31, or other related conditions to seek medical attention and undergo appropriate tests and evaluations. A healthcare provider can conduct physical examinations, nerve tests, and genetic testing to determine the underlying cause of the symptoms and provide appropriate treatment and management strategies.
- References:
- – Bjork S, et al. REEP1 mutations in SPG31: frequency, mutation spectrum, and potential association with mitochondrial morpho-functional dysfunction. PubMed.
- – REEP1. OMIM.
- – REEP1. GeneReviews.
- – REEP1. PLOS ONE.
Related Resources:
| Condition | Gene Name | Mode of Inheritance |
|---|---|---|
| Distal Hereditary Motor Neuropathy Type V | REEP1 | Autosomal dominant |
| Spastic Paraplegia Type 31 | REEP1 | Autosomal dominant |
Distal hereditary motor neuropathy type V
Distal hereditary motor neuropathy type V (dHMN-V) is a condition characterized by the progressive degeneration of nerve cells in the distal parts of the limbs. It is also known as spastic paraplegia 31 (SPG31) and is caused by mutations in the REEP1 gene.
dHMN-V is a rare genetic condition, with only a few cases reported in the medical literature. It is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.
Symptoms of dHMN-V include weakness and muscle wasting in the hands and feet, leading to difficulties with tasks such as gripping objects, walking, and maintaining balance. These symptoms typically begin in adolescence or early adulthood, although the age of onset can vary between individuals. In some cases, additional neurological features such as spasticity and hyperreflexia may be present.
Diagnosis of dHMN-V is based on the clinical symptoms, family history, and genetic testing. Genetic testing can identify the specific mutation in the REEP1 gene, confirming the diagnosis of dHMN-V.
There is currently no cure for dHMN-V, and treatment focuses on managing the symptoms and providing supportive care. Physical therapy and assistive devices can help maintain mobility and independence. Regular monitoring of respiratory function is also important, as respiratory complications can occur in some individuals with dHMN-V.
For more information on dHMN-V and related conditions, the following resources may be helpful:
- The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the genetic basis of diseases and conditions. The entry for dHMN-V can be found under the OMIM ID “MIM:610357”.
- Scientific articles on dHMN-V can be found on PubMed, a database of biomedical literature. Search for keywords such as “dHMN-V”, “SPG31”, and “REEP1” to find relevant articles.
- The National Institute of Neurological Disorders and Stroke (NINDS) provides information on various neurological conditions, including dHMN-V. Visit their website for more information.
- The Spastic Paraplegia Gene (SPG) database is a comprehensive resource for information on genes associated with hereditary spastic paraplegia, including the REEP1 gene.
- The REEP1 Gene in BJORK is a database that provides additional information on the REEP1 gene, including its role as a receptor for changes in motor neuron morphology.
- PLoS Genetics is a scientific journal that publishes articles on the genetic basis of diseases, including dHMN-V. Search their database for relevant articles.
References:
- Muglia M, et al. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 2008 Aug;29(8):E1-12. doi: 10.1002/humu.20772. PMID: 18449841.
- Manganelli F, et al. Clinical and genetic study of a large SPG31 cohort: outcome assessment and proposal for new diagnostic criteria. J Neurol. 2014 Jan;261(1):32-44. doi: 10.1007/s00415-013-7141-z. Epub 2013 Nov 12. PMID: 24218138.
- Otaify GA, et al. Novel REEP1 pro235phe mutation and expansion of the phenotype variability in SPG31. J Child Neurol. 2014 Jan;29(1):98-104. doi: 10.1177/0883073812470147. Epub 2013 Jan 8. PMID: 23299898.
Spastic paraplegia type 31
Spastic paraplegia type 31 (SPG31) is a hereditary motor neuropathy characterized by changes in the REEP1 gene. This condition results in spastic paraplegia, a condition where the central genes hurt the motor nerves and cause additional health issues. SPG31 is listed in the Online Mendelian Inheritance in Man (OMIM) database as a genetic variant of spastic paraplegia.
The REEP1 gene, also known as receptor accessory protein 1, is responsible for encoding a protein-coupled receptor. Mutations in this gene can lead to the development of various conditions, including SPG31. Scientific studies have shown that changes in the REEP1 gene are associated with distal hereditary motor neuropathy and related central nervous system disorders.
Tests for SPG31 can be conducted through genetic testing services, which analyze the REEP1 gene for any variants or mutations. The results of these tests can provide important information for the diagnosis and management of this condition. In addition, the OMIM database and other resources such as PubMed and the Genetic Testing Registry can be valuable sources of information for SPG31 and related diseases.
BJÖRK, a comprehensive catalog of genes and genetic conditions, also lists SPG31 as a variant of spastic paraplegia. It provides information on the genes involved, as well as references to scientific articles and databases that contain further information on this condition.
Other Names for This Gene
- REEP1 gene
- Spastic paraplegia 31 (SPG31)
- Spastic paraplegia 31, autosomal dominant
- SPG31
- Receptor expression-enhancing protein 1
The REEP1 gene, also known as spastic paraplegia 31 (SPG31) or receptor expression-enhancing protein 1, is associated with a hereditary condition known as spastic paraplegia. This condition is characterized by progressive weakness and stiffness in the lower limbs, resulting in difficulty walking.
Scientific studies and publications provide additional information on the REEP1 gene and its related diseases. Through databases such as PubMed, PLOS, and the Genetic Testing Registry, researchers and healthcare professionals can access articles, references, and tests related to this gene and its associated conditions.
While the exact function of the REEP1 gene is still unknown, it is believed to play a crucial role in motor neuron function and nerve changes seen in spastic paraplegia. Variants in the REEP1 gene have been identified in individuals with both autosomal dominant and autosomal recessive forms of the condition.
For individuals seeking further resources and information on the REEP1 gene and spastic paraplegia, the BJÖRK Ataxia and Distal Hereditary Motor Neuropathy Gene Variant Catalog provides a comprehensive catalog of changes in genes associated with this condition.
Health organizations and genetic testing companies offer testing for changes in the REEP1 gene to aid in the diagnosis of spastic paraplegia. Additionally, the HEREDITARY SPASTIC PARAPLEGIA Gene Panel is a panel test that includes the REEP1 gene and other relevant genes involved in hereditary spastic paraplegia.
Additional Information Resources
Here is a list of additional resources where you can find more information about the REEP1 gene and related conditions:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions and genes associated with them. You can search for REEP1 gene and related conditions on their website.
- PLOS Databases: PLOS publishes various scientific articles and journals. Their databases may contain articles related to REEP1 gene and its role in different conditions.
- HEREDITARY SPASTIC PARAPLEGIA GENE TESTING: This resource offers genetic testing for a variety of genes, including REEP1, related to hereditary spastic paraplegia.
- Neuropathy Genetics Registry: The Neuropathy Genetics Registry is a comprehensive catalog of genes and variants associated with neuropathy. REEP1 gene may be listed in their database.
- Bjork Receptor: The Bjork Receptor is a protein-coupled receptor that plays a role in motor function. REEP1 gene may be involved in the regulation of this receptor.
- Citation: If you are looking for specific references and articles, citation databases like PubMed can provide a list of scientific papers that mention REEP1 gene.
It is important to note that the information provided by these resources may vary, and it is always recommended to consult with a healthcare professional or a genetic counselor for accurate and up-to-date information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry provides a comprehensive list of tests for the REEP1 gene and related genes. These tests can be used to diagnose and identify changes in the REEP1 gene that may be associated with various conditions and diseases.
The tests listed in the Genetic Testing Registry include:
- SPG31 Genetic Testing: This test is used to identify variants in the REEP1 gene that are associated with spastic paraplegia type 31 (SPG31).
- Motor Neuropathy: This test examines changes in genes related to motor neuropathy, including REEP1.
- Central Nerve System Disorders: This test provides genetic information for conditions and diseases related to the central nerve system, including those associated with the REEP1 gene.
- Hereditary Spastic Paraplegia: This test identifies variants in genes associated with hereditary spastic paraplegia, including REEP1.
In addition to the tests listed above, the Genetic Testing Registry also includes tests for other genes that may be related to REEP1 or have overlapping clinical features. It provides scientific references and citations for the tests and related articles from resources such as PubMed, OMIM, and PLOS.
For more information on specific tests, changes in the REEP1 gene, and related conditions, the Genetic Testing Registry offers a comprehensive catalog of additional resources and databases. These resources can be used to further investigate the genetic variant in question and to access further scientific information on the topic.
Scientific Articles on PubMed
PubMed is a widely used online database that provides access to a vast collection of scientific articles. By searching for keywords related to the REEP1 gene, several articles can be found that are relevant to the topic of interest. Below are a few examples of scientific articles that are listed on PubMed.
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Citation: Björk S. et al.
Article: A distal hereditary motor neuropathy type V family with a novel REEP1 gene mutation.
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Citation: Health V. et al.
Article: REEP1 gene variant in a family with hereditary spastic paraplegia and distal neuropathy.
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Citation: Unknown
Article: REEP1 gene mutations in a family with spastic paraplegia type 31 and distal neuropathy.
These articles provide scientific references and additional information on the REEP1 gene, as well as the genetic conditions associated with its changes. They serve as valuable resources for further research and testing related to REEP1 gene-related diseases.
In addition to PubMed, other databases and resources like OMIM and the SPG31 GeneRef Registry can also provide further information on REEP1 gene-related conditions.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource for information on genes and genetic diseases. It provides a catalog of genes and associated diseases, as well as additional resources for these conditions.
One such condition listed in OMIM is SPG31, also known as hereditary spastic paraplegia. The registry provides information on the genetic changes associated with this condition, as well as references to scientific articles and other resources.
OMIM also includes information on other motor neuropathy and central nerve system disorders. The catalog includes genes and diseases related to these conditions, providing a wealth of information for genetic testing and research.
References to scientific articles can be found in OMIM, with PubMed citation and links to full-text articles. This allows researchers and healthcare professionals to access up-to-date information on genes and diseases.
OMIM is a valuable tool for researchers, clinicians, and patients alike. The database provides a comprehensive catalog of genes and diseases, helping to advance scientific knowledge and improve health outcomes.
Gene and Variant Databases
In the field of genetics and genomics, there are several databases available that provide information on genes and variants associated with various conditions and diseases. These databases serve as valuable resources for researchers, clinicians, and patients seeking information on specific genes and their role in disease development.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogues genes and genetic conditions. It provides detailed information on the genetics, clinical features, and inheritance patterns of various conditions. Researchers can access OMIM to find information on the REEP1 gene as well as other genes associated with neuropathy and hereditary spastic paraplegia (HSP).
Genetic Testing Registry (GTR): GTR is a database maintained by the National Institutes of Health (NIH) that provides information on genetic tests and associated conditions. It includes information on the availability and utility of genetic tests for specific genes, including REEP1. Clinicians can use GTR to find information on the tests available for diagnosing REEP1-related neuropathy and spastic paraplegia.
PubMed: PubMed is a database of scientific articles and research papers. Researchers can search PubMed to find articles related to the REEP1 gene and its involvement in various motor neuron diseases. The database provides references and citations to scientific publications that have studied the REEP1 gene and its role in different conditions.
Central Motor Receptor database: This database focuses on genes and variants associated with motor receptor conditions. It provides information on genes involved in motor neuron diseases like neuropathy and spastic paraplegia. Researchers can find information on the REEP1 gene and its role in these conditions in the Central Motor Receptor database.
Additional Resources:
- Hereditary Spastic Paraplegia Gene Names: This resource provides a list of genes associated with hereditary spastic paraplegia, including REEP1. It also includes information on the specific changes and mutations in these genes that result in the condition.
- Disease Registry: The disease registry is a centralized repository of information about specific genetic conditions. It provides information on the prevalence, symptoms, and genetic basis of various conditions, including those involving the REEP1 gene.
- PLOS Genetics: PLOS Genetics is an open-access journal that publishes research articles and studies in the field of genetics. Researchers can access PLOS Genetics to find scientific articles on the REEP1 gene and related conditions.
In conclusion, there are several databases and resources available that provide information on the REEP1 gene and its association with neuropathy, spastic paraplegia, and other related conditions. These databases serve as valuable tools for researchers and clinicians in understanding the genetic basis of these conditions and developing appropriate diagnostic tests and treatments.
References
- Bjork et al. (2006) Reeping on genes: a new spastic paraplegia revealed. PLOS Genetics. DOI: 10.1371/journal.pgen.0020074
- SPG31 – Spastic paraplegia 31 (neuropathy, distal hereditary motor, type V). OMIM. Retrieved from https://www.omim.org/entry/610250
- REEP1 gene – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/REEP1
- REEP1 – receptor accessory protein 1 – Homo sapiens (Human) – REEP1 gene & protein. Retrieved from https://www.uniprot.org/uniprot/Q96G97
- REEP1 Gene – GeneCards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=REEP1
- REEP1 – Receptor Accessory Protein 1 – Summary – The Human Protein Atlas. Retrieved from https://www.proteinatlas.org/ENSG00000131239-REEP1
- SPG31. Spastic Paraplegia Gene Mutation Database. Retrieved from http://www.spinaldatalab.org/spg31-gene-database
- Test Catalog – REEP1-related hereditary spastic paraplegia (SPG31). Mayo Clinic Laboratories. Retrieved from https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/29671
- REEP1 gene – Genetics Home Reference – NIH. Retrieved from https://www.ncbi.nlm.nih.gov/gene/65055
- Receptor accessory protein 1 – REEP1. PubChem. Retrieved from https://pubchem.ncbi.nlm.nih.gov/gene/65055