The CYP7B1 gene is a gene that is listed in the Human Gene Mutation Database (HGMD) as a type of cytochrome P450 enzyme. This gene is associated with a condition known as spastic paraplegia, which is characterized by weakness and spasticity in the lower limbs.
In addition to its role in spastic paraplegia, the CYP7B1 gene is also involved in the breakdown of cholesterol and other molecules in the body. This gene provides instructions for making an enzyme that is important for the conversion of cholesterol to other substances, such as bile acids.
Information about the CYP7B1 gene and its associated conditions can be found in various genetic testing databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific references, citations, and additional information on the gene, its variants, and related conditions.
Testing for changes in the CYP7B1 gene can be useful for diagnosing spastic paraplegia and other diseases that are related to abnormalities in the cholesterol pathway. This testing can help in identifying individuals who are at risk for developing these conditions, as well as providing information on their prognosis and potential treatment options.
Other names for the CYP7B1 gene include cytochrome P450, family 7, subfamily B, polypeptide 1; SPG5A; and oxysterol 7-alpha-hydroxylase. Resources for information and support regarding the CYP7B1 gene and related conditions can be found in various genetic resources, health articles, and other online catalogs.
Health Conditions Related to Genetic Changes
Genetic changes in the CYP7B1 gene can lead to various health conditions. One such condition is spastic paraplegia, which is characterized by muscle stiffness and weakness in the legs. The severity and age of onset of this condition can vary, with some individuals experiencing symptoms from childhood and others developing symptoms later in life.
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Changes in the CYP7B1 gene can result in the production of an abnormal variant of the enzyme cytochrome P450 7B1. This variant is unable to properly breakdown certain molecules and metabolites in the body, leading to the accumulation of toxic substances. The buildup of these substances can cause damage to nerve cells, resulting in the symptoms associated with spastic paraplegia.
Individuals with spastic paraplegia caused by genetic changes in the CYP7B1 gene may also experience additional health problems. Some individuals may have intellectual disability, problems with coordination and balance, or other neurological issues.
To diagnose spastic paraplegia related to CYP7B1 gene changes, genetic testing can be performed. This testing can identify specific changes or variants in the gene that are associated with the condition. Additionally, additional testing may be done to measure the activity of the enzyme produced by the gene.
There are several resources available to learn more about genetic changes in the CYP7B1 gene and associated health conditions. The Online Mendelian Inheritance in Man (OMIM) database provides information on the gene, its function, and associated diseases. PubMed, a scientific research database, contains articles and references on the topic. Additionally, the Genetic Testing Registry catalogs information on genetic tests available for this gene and related conditions.
Other genes and enzymes in the same pathway as CYP7B1 can also be implicated in related health conditions. Changes in these genes can disrupt the breakdown of certain molecules and metabolites, leading to similar symptoms and health problems.
In summary, genetic changes in the CYP7B1 gene can result in spastic paraplegia and other health conditions. Understanding the genetic and biological mechanisms underlying these conditions can help in the development of targeted treatment options and improve patient care.
Spastic paraplegia type 5A
Spastic paraplegia type 5A is a genetic condition that is characterized by progressive weakness and spasticity in the lower limbs. This condition is caused by mutations in the CYP7B1 gene. The CYP7B1 gene provides instructions for making an enzyme called cytochrome P450 7B1, which is involved in the breakdown of certain fats in the body.
Individuals with spastic paraplegia type 5A experience difficulty walking due to the weakness and stiffness of the leg muscles. The severity of the symptoms can vary widely, ranging from mild to severe. In some cases, the muscle weakness may spread to the arms.
This condition is inherited in an autosomal recessive manner, which means that both copies of the CYP7B1 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Diagnosis of spastic paraplegia type 5A involves genetic testing to identify mutations in the CYP7B1 gene. This testing can be done using a variety of techniques, including sequencing the entire gene or specific regions of interest. Other tests may also be performed to evaluate nerve function and identify any other related conditions.
Genetic testing for spastic paraplegia type 5A is available through commercial laboratories and research facilities. Information about testing locations can be obtained from several resources, including the Genetic Testing Registry (GTR) and the Clinical Lab Catalog (ClinVar).
Scientific articles related to spastic paraplegia type 5A can be found in databases such as PubMed and OMIM. These articles provide detailed information on the genetics, clinical features, and management of the condition. Additional information on the CYP7B1 gene and related genes can also be found in these databases.
There are currently no specific treatments for spastic paraplegia type 5A. Management involves addressing the symptoms and supporting the individual’s overall health. Physical therapy and assistive devices may help improve mobility and reduce muscle stiffness. Genetic counseling may also be beneficial for affected individuals and their families.
- CYP7B1 gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/CYP7B1
- Spastic paraplegia 5A (CYP7B1-associated). (n.d.). OMIM. Retrieved from https://www.omim.org/entry/270800
- PubMed search results for “spastic paraplegia type 5A”. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=spastic+paraplegia+type+5A
Other Names for This Gene
The CYP7B1 gene is also known by other names, including:
Testosterone 5-alpha-reductase type 3
Steroid 5-alpha-reductase type 3
5-alpha-reductase deficiency type 3
Cytochrome P450 7B1
These additional names reflect the various roles and functions of the CYP7B1 gene in human health. It is involved in the breakdown of hormones such as testosterone, and its variant form can lead to abnormal hormone metabolism. Changes in this gene have been linked to conditions such as nerve cell survival, spastic paraplegia, and weakness. The CYP7B1 gene is listed in various scientific databases and resources, including OMIM and PubMed, where additional information, articles, and references can be found for further reading and research.
Additional Information Resources
Here is a list of additional resources related to the CYP7B1 gene:
- Databases: OMIM, PubMed, SciELO
- Testing: Genetic testing for changes in the CYP7B1 gene
- Survival Tests: Testing for abnormal enzyme activity and breakdown of cholesterol
- Related Genes: Genes and enzymes involved in the same pathway as CYP7B1
- Genetic Registry: Registry for genetic changes in the CYP7B1 gene
Additionally, the following resources can provide more information on diseases and conditions associated with the CYP7B1 gene:
- OMIM: Online Mendelian Inheritance in Man – a catalog of human genes and genetic disorders
- PubMed: A database of scientific articles and references
- SciELO: Scientific Electronic Library Online – an open-access repository of articles
Other names for the CYP7B1 gene include:
- Cytochrome P450 7B1
Some conditions associated with changes in the CYP7B1 gene include:
- Hereditary spastic paraplegia
- Nerve weakness
- Loss of strength and coordination
Tests Listed in the Genetic Testing Registry
Genetic testing plays a vital role in understanding various diseases and conditions. The CYP7B1 gene is one such gene that has been extensively studied for its involvement in different health issues. The following tests are listed in the Genetic Testing Registry, providing valuable information about the gene:
- Nerve cell breakdown test: This test helps identify abnormalities in nerve cells caused by mutations in the CYP7B1 gene.
- OMIM test: The Online Mendelian Inheritance in Man (OMIM) database contains detailed scientific articles about the CYP7B1 gene and its role in various diseases.
- PubMed variant citation: This test provides information on the specific variants found in the CYP7B1 gene and their association with different conditions.
- Gene survival pathway test: This test examines the gene’s involvement in the survival pathway and its impact on the overall health and well-being.
- Spastic paraplegia test: This test focuses on the CYP7B1 gene’s connection to the development of spastic paraplegia, a condition characterized by muscle weakness and spasticity.
Additionally, the Genetic Testing Registry also lists other genes and conditions related to the CYP7B1 gene. It provides further resources and references for additional testing and research:
- Genes related to CYP7B1: This section outlines other genes that interact with the CYP7B1 gene and contribute to the development of specific diseases or conditions.
- Diseases and conditions: Here, one can find information on various diseases and conditions associated with abnormalities in the CYP7B1 gene.
- Enzymes of the cytochrome P450 pathway: This section highlights the enzymes involved in the cytochrome P450 pathway, which is essential for the breakdown of various substances in the body.
The Genetic Testing Registry provides a comprehensive collection of tests and resources related to the CYP7B1 gene. It offers valuable information on the gene’s role in different health conditions, aiding in diagnosis and potential treatment options.
Scientific Articles on PubMed
PubMed is a popular database for scientific articles related to various genetic conditions and genes. It provides a comprehensive collection of references from various sources, including journals and databases. Researchers and healthcare professionals can use PubMed to access information on the CYP7B1 gene and other related genes that are involved in the breakdown of 5a-steroids.
Genetic Testing and Omim
The CYP7B1 gene variant is associated with various conditions such as spastic paraplegia, neuropathy, and other neurological disorders. Genetic testing can help identify mutations in this gene and provide important information for diagnosis, prognosis, and treatment options. OMIM (Online Mendelian Inheritance in Man) is a valuable resource for information on genetic conditions and related genes.
Enzymes and Pathway
The CYP7B1 gene encodes an enzyme that is involved in the breakdown of 5a-steroids. This pathway plays a crucial role in the regulation of hormones and other biological processes. Understanding the function and regulation of this gene and its associated enzymes is important for determining the underlying mechanisms of various disorders and developing potential therapeutic strategies.
Scientific Articles and Results
PubMed provides access to numerous scientific articles that investigate the role of the CYP7B1 gene in various diseases and conditions. These articles explore the genetic changes, cellular and molecular mechanisms, and clinical implications associated with this gene. They provide important insights into the potential causes, progression, and treatment options for conditions characterized by spasticity, weakness, and loss of motor function.
References and Resources
Researchers and healthcare professionals can find additional information on the CYP7B1 gene and related genes through references provided in PubMed articles. These references can lead to other relevant articles, research studies, and resources for further exploration. PubMed also provides access to databases such as OMIM and gene catalogs, which contain valuable information on genes, diseases, and related resources.
PubMed is a valuable tool for accessing scientific articles that explore the role of the CYP7B1 gene and other genes involved in the breakdown of 5a-steroids. These articles provide important information on the genetic changes, cellular mechanisms, and clinical implications associated with these genes. They contribute to our understanding of various diseases and conditions characterized by spasticity, weakness, and loss of motor function, and offer potential avenues for further research and therapeutic interventions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides detailed information on genetic disorders and their associated genes.
OMIM contains information on this CYP7B1 gene, which is responsible for the breakdown of cholesterol and sterol intermediates. Abnormal changes in this gene can lead to various conditions such as spastic paraplegia type 5A, which is characterized by weakness and loss of function in the lower limbs.
The OMIM database provides additional information on other genes and genetic conditions related to the CYP7B1 gene. It lists scientific references, including citations to PubMed articles, for further reading and exploration.
OMIM also includes information on the survival and health of individuals with genetic conditions. It provides resources for genetic testing and variant analysis to aid in the diagnosis and management of these conditions.
Enzymes, such as cytochrome P450 7B1 (CYP7B1), play a crucial role in the breakdown of cholesterol and sterol intermediates in the cell. Changes in the CYP7B1 gene can result in abnormal enzyme function and disrupt the cholesterol pathway.
The OMIM catalog provides names and descriptions of genes and genetic conditions, ensuring comprehensive coverage of various diseases and conditions.
Overall, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genes, genetic conditions, and related resources. It offers a comprehensive collection of scientific information and references to facilitate research and promote understanding of genetic disorders.
|Gene responsible for the breakdown of cholesterol and sterol intermediates
|Spastic Paraplegia Type 5A
|Genetic condition characterized by weakness and loss of function in the lower limbs
|References to scientific articles related to genes and genetic conditions
Gene and Variant Databases
The CYP7B1 gene, also known as cytochrome P450 family 7 subfamily B member 1, is listed in several gene and variant databases that provide valuable information on its function, associated diseases, and genetic changes.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database catalogs genetic disorders, including the CYP7B1-related diseases such as spastic paraplegia type 5A. This database provides detailed descriptions of gene mutations, clinical features, inheritance patterns, and references to relevant scientific articles.
- PubMed: PubMed is a vast resource for scientific articles related to genetics and various diseases, including those associated with the CYP7B1 gene. Searching for “CYP7B1” on PubMed yields results from studies, reviews, and case reports, providing further information on the gene’s role in health and disease.
GeneReviews: GeneReviews is a comprehensive resource that provides information on genetic conditions and the associated genes. It offers up-to-date and evidence-based summaries of gene-specific diseases, including CYP7B1-related spastic paraplegia. GeneReviews also provides genetic testing information, recommendations, and resources for patients, healthcare professionals, and researchers.
Other Databases: In addition to these major databases, there are several other gene and variant databases that may contain information on the CYP7B1 gene. These include dbSNP, ClinVar, and HGMD. These databases provide detailed information on genetic changes, variant classifications, and their associations with diseases.
Genetic testing can be performed to identify changes in the CYP7B1 gene that may be related to various conditions. Testing can help diagnose specific diseases or assess the risk of developing them. Clinical laboratories and genetic testing companies offer tests for CYP7B1 gene variants.
It is important to consult with healthcare professionals and genetic counselors before undergoing genetic testing. They can provide guidance on the appropriateness, benefits, and limitations of genetic tests and their implications for personal health and family planning.
- OMIM – Online Mendelian Inheritance in Man, the comprehensive catalogue of human genes and genetic diseases. Available at: www.omim.org
- Pathway of the CYP7B1 gene – Information on the genetic pathway and functions of the CYP7B1 gene. Available at: https://www.omim.org/entry/603711
- Articles on CYP7B1 gene – Scientific articles and studies on the CYP7B1 gene and related conditions. Available at PubMed, a database of scientific literature. Available at: https://pubmed.ncbi.nlm.nih.gov
- Citation information for CYP7B1 gene – Citations and references for information on the CYP7B1 gene. Available in scientific articles and databases.
- Additional names for the CYP7B1 gene – Other names and aliases for the CYP7B1 gene used in scientific literature and databases.
- Catalog of variant changes in the CYP7B1 gene – Catalog and database of variant changes and mutations in the CYP7B1 gene associated with genetic diseases and conditions.
- Loss of function of the CYP7B1 gene – Information on the loss of function of the CYP7B1 gene and its impact on health and genetic conditions.
- Nerve cell survival and CYP7B1 gene – Information on the role of the CYP7B1 gene in nerve cell survival and the implications for related conditions.
- Weakening of type 5a for CYP7B1 gene – Weakening or abnormal function of type 5a cytochrome enzymes related to the CYP7B1 gene and its impact.
- Changes in the CYP7B1 gene – Genetic changes and mutations in the CYP7B1 gene and their effects on health and genetic conditions.
- References to related genes and diseases – References and information on other genes and genetic diseases related to the CYP7B1 gene.
- Cell testing of the CYP7B1 gene – Laboratory testing and experiments conducted on cells related to the CYP7B1 gene and its functions.
- Genetic testing for CYP7B1 gene – Information on genetic testing and diagnostic methods for the CYP7B1 gene and associated conditions.
- Related resources and databases for the CYP7B1 gene – Additional resources, registries, and databases related to the study of the CYP7B1 gene and its functions.