The SPAST gene is a crucial gene associated with spastic paraplegia, a group of genetic, neurodegenerative disorders characterized by muscle stiffness and weakness in the legs. The SPAST gene, also known as SPG4, plays a dominant role in regulating the production of a protein called spastin. Mutations in this gene can lead to changes in spastin production, resulting in the development of various types of spastic paraplegia.
The SPAST gene is listed in various databases and resources that provide information on genetic and health-related conditions. One such database is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and genetic disorders. Additional references and scientific articles on the SPAST gene can be found in PubMed, a repository of scientific literature.
For individuals with suspected spastic paraplegia, genetic testing can be conducted to identify any variants or changes in the SPAST gene. This information can be used to determine an accurate diagnosis and guide treatment options. Genetic testing can also be valuable for families with a history of spastic paraplegia, as it can provide insight into the likelihood of the condition being inherited.
Understanding the function of the SPAST gene and the role it plays in spastic paraplegia is essential for ongoing research and the development of potential therapeutic approaches. The study of this gene and its associated proteins may lead to new insights into the underlying mechanisms of spastic paraplegia and the development of targeted therapies to alleviate symptoms and slow disease progression.
Health Conditions Related to Genetic Changes
Genetic changes in the SPAST gene can lead to various health conditions. The SPAST gene provides instructions for making a protein called spastin, which plays a role in regulating the structure and function of cells, particularly nerve cells.
Changes in the SPAST gene can result in a type of muscle spasticity known as hereditary spastic paraplegia (HSP). HSP is characterized by progressive weakness and stiffness in the legs. It can also affect other parts of the body, such as the arms and hands.
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There are several different types of HSP, each with its own set of characteristic features. The specific type of HSP is often identified by its inheritance pattern and associated symptoms. Some of the different names for HSP include SPG4, SPG3A, SPG10, and SPG11, among others.
Additional health conditions related to genetic changes in the SPAST gene include spastic ataxias and other forms of spastic paraplegias. These conditions share similar symptoms, including muscle stiffness and difficulties with movement.
Research articles and scientific resources such as OMIM, PubMed, and genetic testing databases provide more information on these health conditions. They also list references and variant information for further study and evaluation.
Genetic testing can be used to identify changes in the SPAST gene that may be associated with these conditions. Testing can be done through various laboratories and genetic testing services, using different methods such as DNA sequencing and deletion/duplication analysis.
If you suspect you or someone you know may have a health condition related to genetic changes in the SPAST gene, it is important to consult with a healthcare professional for proper diagnosis, evaluation, and management. They can provide guidance on available resources, treatments, and supportive measures.
Spastic paraplegia type 4
Spastic paraplegia type 4 (SPG4), also known as hereditary spastic paraplegia type 4, is a genetic condition caused by changes in the SPAST gene. This gene is responsible for producing a protein called spastin, which plays a crucial role in regulating the structure of cells.
SPG4 is listed in various genetic databases and registries as a dominant variant of spastic paraplegia. It is related to other types of spastic paraplegia, a group of conditions that cause muscle stiffness and weakness in the lower limbs.
Scientific articles and references related to SPG4 can be found in databases such as PubMed and OMIM. These resources provide valuable information on the genetic changes associated with this condition and testing options available.
In the catalog of genetic tests for spastic paraplegia, SPG4 is listed as one of the genes to be tested. Testing for changes in the SPAST gene can help in confirming the diagnosis of SPG4.
For more information on SPG4 and related conditions, it is recommended to consult credible health resources such as PubMed, OMIM, and scientific articles on spastic paraplegia.
- SPG4 is a genetic condition caused by changes in the SPAST gene
- The SPAST gene produces a protein called spastin
- Spastin plays a role in regulating cell structure
- SPG4 is listed in genetic databases and registries
- It is related to other types of spastic paraplegia
- PubMed and OMIM provide scientific information on SPG4
- Genetic testing can detect changes in the SPAST gene
- Consult PubMed, OMIM, and scientific articles for more information
Other Names for This Gene
- Spastin: This gene is also known as spastin, which is the official gene symbol.
- SPG4: It is also referred to as SPG4, which stands for hereditary spastic paraplegia type 4.
- SPAST-4: Another name for this gene is SPAST-4, which indicates its association with hereditary spastic paraplegia type 4.
These other names are commonly used in various databases, articles, and scientific references related to this gene. They facilitate easy identification and retrieval of information about the gene in research articles, genetic testing, and disease registries.
Additional Information Resources
The SPAST gene is a dominant type of gene that is related to spastic paraplegia. There are several resources available to provide additional information on this gene and related conditions. These resources include:
- Articles and Scientific References: PubMed is a database that provides access to a wide range of articles and scientific references related to the SPAST gene. These articles can provide detailed information on the genetic changes, testing methods, and health conditions associated with this gene.
- Genetic Databases: OMIM is a genetic database that lists information on genes and genetic conditions. It provides detailed summaries of the SPAST gene, including variant names, gene changes, and associated conditions.
- Genetic Testing: The SPAST Gene Testing Registry is a resource that provides information on genetic testing for the SPAST gene. This registry can help individuals and healthcare professionals find testing laboratories and understand the types of tests available for this gene.
- Health Information: Online health resources, such as the Genetic and Rare Diseases Information Center, provide information on the SPAST gene and related conditions. These resources can help individuals learn about the symptoms, treatments, and support available for spastic paraplegia.
- Scientific Catalogs: Scientific catalogs, such as the Catalog of Somatic Mutations in Cancer (COSMIC), may contain information on the SPAST gene and its role in muscle cells. These catalogs provide information on the role that genes like spastin play in regulating muscle structure and function.
These resources can provide individuals and healthcare professionals with additional information on the SPAST gene, its role in spastic paraplegia, and related conditions. By accessing these resources, individuals can stay informed about the latest research and advancements in the field of genetics.
Tests Listed in the Genetic Testing Registry
Tests listed in the Genetic Testing Registry (GTR) for the SPAST gene, which encodes the protein spastin, provide additional information on genetic changes that can cause spastic paraplegia. Spastic paraplegia is a type of genetic disorder that affects the health and function of muscle cells, leading to spasticity in the lower limbs.
The GTR is a catalog of genetic tests and their associated scientific information, including variant names, references to scientific articles and databases, and resources for healthcare professionals and patients.
The tests listed in the GTR for the SPAST gene include:
- Testing for changes in the SPAST gene that are known to cause spastic paraplegia
- Dominant SPAST gene testing for other related conditions
- Testing for variants of unknown significance in the SPAST gene
In addition to the GTR, information on the SPAST gene can also be found on other databases such as PubMed and OMIM. These databases provide scientific and clinical information on the gene, its function, and its role in diseases.
Research articles and references related to the SPAST gene and spastic paraplegia can be accessed through PubMed, providing further insight into the genetic basis of this condition and its underlying mechanisms.
Genetic testing for the SPAST gene plays a crucial role in diagnosing spastic paraplegia and related conditions. By identifying genetic changes in this gene, healthcare professionals can better understand and manage the condition, providing personalized care for patients.
Scientific Articles on PubMed
The SPAST gene, also known as spastin, plays a role in the development of a condition called spastic paraplegia. This genetic variant is related to a type of muscle weakness and stiffness called spasticity. There are 4 identified genetic changes listed for this gene in the OMIM registry, with additional names from the Human Gene Nomenclature Committee catalog. Testing this gene can provide valuable information about the presence of spastic paraplegia and other related conditions.
PubMed, a database of scientific articles, provides resources for research on the SPAST gene. Many articles have been published on the genetic and cellular aspects of spastic paraplegia. These articles can offer valuable insight into the structure and function of the gene, as well as the impact of specific mutations on the development of the disease.
Other genetic tests and databases can also be used to study the genes associated with spastic paraplegia and related conditions. These tests can provide important information about the specific variants and changes in other genes that may contribute to the development of the disease.
- OMIM: Online Mendelian Inheritance in Man
- Human Gene Nomenclature Committee catalog
- PubMed articles on spastic paraplegia
These resources can be useful for researchers and healthcare professionals seeking to understand the genetic basis of spastic paraplegia and develop new diagnostic and treatment strategies for affected individuals.
Catalog of Genes and Diseases from OMIM
The SPAST gene plays a significant role in the regulation of muscle cells. Mutations in this gene can lead to spastic paraplegia, a type of genetic condition characterized by spastic muscles in the legs.
The OMIM catalog provides a comprehensive list of genes and diseases associated with the SPAST gene. This catalog includes information on genetic variants, changes in the gene, and other genetic names for SPAST.
OMIM also provides additional resources such as scientific articles, PubMed references, and databases for further testing and research. These resources can help researchers and healthcare professionals gain a better understanding of the SPAST gene and related conditions.
Spastin, the protein encoded by the SPAST gene, has been found to have a structural role in cells and is involved in various cellular processes. Mutations in SPAST can disrupt the normal functioning of spastin and lead to the development of spastic paraplegia.
The OMIM catalog lists various types of spastic paraplegia and provides information on the associated genetic changes and symptoms. This information can be useful for medical professionals in diagnosing and treating individuals with spastic paraplegia.
In addition to spastic paraplegia, the OMIM catalog also lists other genetic diseases and conditions that are related to the SPAST gene. This comprehensive list helps researchers and healthcare professionals explore the different roles and functions of the SPAST gene in various genetic conditions.
Overall, the OMIM catalog provides valuable genetic information and resources for studying the SPAST gene and its association with spastic muscle conditions. It serves as a useful tool for researchers, healthcare professionals, and individuals seeking information on genetic diseases.
Gene and Variant Databases
Variant names and databases are crucial resources that provide genetic information related to the SPAST gene and its variants. These databases serve as comprehensive repositories for variant names, and they play a significant role in the testing and research of genetic conditions such as spastic paraplegia.
Here are four major databases that serve as valuable resources for variant information:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic conditions. It provides comprehensive information on various genes, including the SPAST gene, associated with spastic paraplegia.
- Spastic Paraplegia Gene (SPG) Database: This database specifically focuses on the spastic paraplegia gene family, including the SPAST gene. It contains information on mutations, variants, and related diseases.
- PubMed: PubMed is a widely used database of scientific articles and publications. It contains references to studies, research, and clinical observations related to the SPAST gene and its variants.
- The Human Gene Mutation Database (HGMD): HGMD is a comprehensive collection of germline mutations associated with human genetic disorders. It provides information on genetic variants and their impact on health.
These databases help in identifying, cataloging, and understanding the various changes and variants of the SPAST gene. They serve as valuable resources for researchers, clinicians, and individuals seeking genetic information on spastic paraplegia and related conditions.
In addition to these databases, there are other resources and tests available to further study and regulate the SPAST gene and its role in spastic paraplegia. Genetic testing, cell line models, and structural analysis are some of the methods used to investigate the gene’s function and its implications in dominant conditions.
Overall, the availability of these gene and variant databases, along with other scientific resources, is essential for advancing our understanding of the SPAST gene, its variants, and their role in spastic paraplegia and related diseases.
OMIM – Online Mendelian Inheritance in Man. SPAST Gene. Retrieved from https://www.omim.org/entry/604277
NCBI – National Center for Biotechnology Information. SPAST gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/6683
Health Ressources. SPAST gene. Retrieved from https://ghr.nlm.nih.gov/gene/SPAST
Orphanet. SPAST gene. Retrieved from https://www.orpha.net/consor/cgi-bin/Gene.php?lng=en&data_id=797
Pubmed – US National Library of Medicine. SPAST gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=SPAST+gene