The TUBA1A gene, also called α-tubulin, is one of the genes associated with neurological conditions. It codes for a protein called β-tubulin, which is a key component of microtubules. Microtubules are involved in many cellular processes, including cell division, cell shape, and intracellular transport. Changes in the TUBA1A gene can result in a variety of neurological disorders, such as lissencephaly and cerebellar hypoplasia.
The TUBA1A gene is listed in various genetic databases and resources, such as OMIM and the Genetic Testing Registry. These resources provide additional information about the gene, including its sequence, related diseases and conditions, and references to scientific articles. Testing for variants in the TUBA1A gene can be done to make a genetic diagnosis for individuals with neurological disorders.
Research has found that mutations in the TUBA1A gene can result in abnormal brain development, leading to neurological problems. Individuals with TUBA1A gene mutations may experience delays in motor skills, intellectual disability, and seizures. The severity and specific features of these conditions can vary widely, even among individuals with the same gene mutation.
Overall, the TUBA1A gene plays a crucial role in brain development and function. Understanding the functions and changes in this gene can provide insights into the underlying mechanisms of various neurological conditions and help develop targeted treatments and interventions.
Health Conditions Related to Genetic Changes
The TUBA1A gene is responsible for creating instructions for making a protein called α-tubulin. This protein plays a crucial role in the structure of cells, allowing them to maintain their shape and support various cellular processes. Genetic changes in the TUBA1A gene can result in health conditions and disabilities.
One of the health conditions associated with genetic changes in the TUBA1A gene is lissencephaly. Lissencephaly is a rare neurological disorder characterized by smooth brain surfaces due to the improper migration of neurons during brain development. Individuals with lissencephaly often experience severe intellectual disability, seizures, feeding difficulties, and muscle spasms.
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Another condition associated with genetic changes in the TUBA1A gene is cerebellar hypoplasia. Cerebellar hypoplasia refers to the underdevelopment of the cerebellum, a part of the brain responsible for coordinating voluntary movements, balance, and posture. This condition can result in motor impairment, developmental delay, and difficulties with coordination and balance.
Information about these conditions and other related diseases can be found in scientific databases like OMIM and PubMed. These databases provide additional resources, articles, and references for further understanding of the genetic changes linked to health conditions.
Genetic testing can be used to identify changes in the TUBA1A gene and provide a diagnosis for individuals suspected of having these health conditions. Genetic tests can analyze the sequence of the gene and identify any variants or changes that may be associated with the disease.
Overall, the TUBA1A gene plays a critical role in neurological development, and genetic changes in this gene can result in various health conditions and disabilities. Understanding these genetic changes is essential for diagnosis, management, and further research into these conditions.
Isolated Lissencephaly Sequence
Isolated lissencephaly sequence (ILS) is a neurological condition related to mutations in the TUBA1A gene. It is characterized by a smooth brain surface, or lissencephaly, due to abnormal neuronal migration during development.
ILS is a rare disorder and has been extensively studied by scientific research. A significant amount of information about ILS can be found in related articles and references. PubMed, a well-known scientific database, contains numerous articles and resources on this condition.
ILS is primarily caused by changes in the TUBA1A gene, which is responsible for encoding the α-tubulin protein. α-tubulin is a crucial component of microtubules in the brain, which play a vital role in cellular processes and neuronal migration. Mutations in the TUBA1A gene can result in overall abnormalities in brain development, leading to the characteristic lissencephaly observed in ILS.
In addition to TUBA1A, other genes, such as β-tubulin genes and associated proteins, have also been found to be related to lissencephaly and cerebellar hypoplasia. Overall, the understanding of genetic factors contributing to ILS is constantly evolving as new studies and research findings emerge.
Diagnosis of ILS often involves genetic testing, which can identify mutations in the TUBA1A gene or other related genes. These tests can be performed using various resources and databases that catalog genetic changes associated with lissencephaly and related conditions.
Individuals with ILS usually experience a range of neurological and developmental disabilities that may vary in severity. These can include intellectual disability, developmental delays, seizures, hypotonia, and impaired motor function.
As there is currently no known cure for ILS, treatment is mainly focused on managing the symptoms and providing supportive care. Early intervention therapies, such as physical therapy, occupational therapy, and speech therapy, can help maximize the individual’s potential and improve their overall quality of life.
The TUBA1A gene and related research on lissencephaly have contributed significantly to understanding the genetic basis of this condition. Ongoing studies, registry databases, and scientific articles continue to expand knowledge and provide additional information on ILS.
Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia is a variant of lissencephaly, a rare genetic disorder characterized by abnormal brain development. In this particular form of lissencephaly, cerebellar hypoplasia (underdevelopment of the cerebellum) is also present.
This condition is caused by changes in the TUBA1A gene. The TUBA1A gene provides instructions for making a protein called alpha-tubulin. Alpha-tubulin is one of the building blocks of tubulin, a protein essential for cell division and maintaining cell structure.
Scientific research has found that variants in the TUBA1A gene are related to lissencephaly with cerebellar hypoplasia. These variants can disrupt the normal function of alpha-tubulin, leading to impaired brain development and neurological disability.
Information about this genetic condition can be found in various scientific databases such as PubMed, OMIM, and Genet. These databases provide references to articles and studies related to lissencephaly with cerebellar hypoplasia and its association with the TUBA1A gene.
Additional resources for individuals and families affected by this condition can be found through organizations like the Lissencephaly Resource and Research Registry and genetic testing services that offer tests specifically for the TUBA1A gene.
It’s important to note that lissencephaly with cerebellar hypoplasia is just one of many conditions associated with changes in the tubulin genes. There are other isolated lissencephaly and cerebellar hypoplasia genes listed in the genetic testing catalog, as well as genes associated with other neurological diseases.
In overall, research on the TUBA1A gene and its implications for brain development and neurological disorders is ongoing, and new discoveries are continuously made.
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Other Names for This Gene
The TUBA1A gene, also referred to as α-tubulin, is listed under various other names in databases and resources for genetic information. These alternative names include:
- TUBA1
- TUBA3
- TUBA4
- TUBA5
α-tubulin is part of the tubulin family of genes, which also includes the β-tubulin gene. Mutations or changes in the TUBA1A gene can result in several neurological conditions, including:
- Lissencephaly
- Isolated lissencephaly sequence
- Migrations disorder of the cerebellar hypoplasia type
These conditions are characterized by changes in brain structure and function, leading to developmental delays, intellectual disability, and other neurological impairments.
Additional information on the TUBA1A gene and related diseases can be found in scientific articles, databases, and registries. Some resources for further information include:
- Genet
- OMIM
- PubMed
- Catalog of genes and genetic variants
These resources provide comprehensive information on the TUBA1A gene, its functions, associated diseases, and ongoing research in the field. Researchers and healthcare professionals can refer to these sources for up-to-date information on this gene and its implications for human health.
Additional Information Resources
- Isolated TUBA1A gene sequence: The complete sequence of the TUBA1A gene can be found in scientific databases such as PubMed and OMIM.
- Genetic testing: Genetic testing can be done to identify changes or variants in the TUBA1A gene that could be related to disability or neurological conditions.
- Registry: There are registries available for individuals with TUBA1A gene mutations. These registries collect information on affected individuals to further understand the overall impact of these changes.
- Related proteins: The TUBA1A gene codes for a protein called α-tubulin, which is part of a group of proteins called tubulin. Other proteins in the tubulin family, such as β-tubulin, are also involved in various cellular processes.
- Articles and scientific papers: There are numerous articles and scientific papers available that provide more information on TUBA1A gene mutations, their impact on health, and related conditions such as lissencephaly and hypoplasia of the cerebellar vermis.
- Tests and databases: There are genetic tests available specifically for TUBA1A gene mutations, and these can be found through various genetic testing databases. These databases catalog information on gene variants and their associated conditions or diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central catalog of genetic tests and genes. It provides information about the tests available for a particular gene and their associated conditions.
When it comes to the TUBA1A gene, the GTR lists several tests related to various conditions. TUBA1A is a member of the tubulin family of proteins and is associated with lissencephaly and cerebellar hypoplasia, which are neurological disorders causing disabilities in individuals.
Here are the tests listed in the GTR related to the TUBA1A gene:
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Test 1: Isolated lissencephaly sequence variant analysis in TUBA1A gene.
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Test 2: TUBA1A gene sequencing for neurological disorders.
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Test 3: TUBA1A gene variant analysis for cerebellar hypoplasia.
These tests aim to identify specific genetic changes or variants in the TUBA1A gene that may be associated with the mentioned conditions. They are valuable resources for healthcare professionals and individuals seeking genetic testing and counseling services.
For more information on these tests, additional variant databases, and scientific articles related to the TUBA1A gene, the GTR provides references to various resources such as PubMed and OMIM. These databases contain a wealth of information on genes, genetic variants, and related diseases.
Scientific Articles on PubMed
Catalog of Scientific Articles on TUBA1A Gene
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Health changes associated with mutations in the TUBA1A gene
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Testing databases for TUBA1A gene mutations in neurological diseases
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Isolated neurological conditions and TUBA1A gene mutations
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The TUBA1A gene and its role in neurological disorders
References
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Genes related to TUBA1A gene sequence variants
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Genetic articles on TUBA1A gene from PubMed
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Names and information of proteins associated with TUBA1A gene variants
OMIM and Other Resources
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TUBA1A gene and its association with migration disorders
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Hypoplasia of β-tubulin and other TUBA1A gene-related conditions
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TUBA1A gene registry and its role in genetic testing for neurological disorders
Overall Disability of TUBA1A Gene Mutations
Lissencephaly and cerebellar hypoplasia as a result of TUBA1A gene mutations
Additional Tests for TUBA1A Gene Variants
Testing for α-tubulin and other TUBA1A gene-related variants in genetic testing
Catalog of Genes and Diseases from OMIM
This catalog provides information on the TUBA1A gene and its related diseases. The TUBA1A gene is responsible for encoding α-tubulin, one of the proteins that make up the microtubules. Microtubules play a crucial role in various cellular processes, including cell division, intracellular transport, and cell structure.
Genetic changes in the TUBA1A gene have been found to be associated with a range of neurological disorders. These disorders include lissencephaly with cerebellar hypoplasia, which is characterized by abnormal brain development and impaired motor function.
OMIM, the Online Mendelian Inheritance in Man, is a comprehensive resource that provides information on genes and genetic disorders. It serves as a registry of genetic tests and lists scientific articles and references related to genes and diseases.
OMIM contains detailed information on the TUBA1A gene, including its genomic sequence, variants, and disease associations. It also provides additional resources such as links to other databases, scientific articles, and testing laboratories.
To access specific information on the TUBA1A gene and its related diseases in OMIM, you can search for “TUBA1A” in the search bar on the OMIM website. This will provide you with an overview of the gene, its associated diseases, and references to scientific articles.
Overall, OMIM is a valuable tool for researchers, clinicians, and individuals interested in genetic and neurological health. It provides a comprehensive catalog of genes and diseases, including the TUBA1A gene and its associated disorders, making it a valuable resource for genetic testing, research, and clinical decision-making.
Gene and Variant Databases
Databases play a crucial role in storing and organizing genetic information related to genes and their variants. These databases provide a vast collection of variant information, enabling researchers and healthcare professionals to access valuable data for various purposes, such as understanding genetic conditions, diagnosing patients, and conducting research.
One such database that focuses on genetic variants is the GenBank database, which is managed by the National Center for Biotechnology Information. GenBank is a comprehensive collection of genetic sequences, including variations found in different genes, such as the TUBA1A gene.
The TUBA1A gene is associated with various neurological conditions, including lissencephaly and cerebellar hypoplasia. Variants in this gene can result in a range of disabilities and other neurological manifestations.
Genetic variant databases provide a wealth of information about specific gene variants. They list the names, sequence changes, and additional information related to these variants. One example is the TUBA1A variant database, which catalogues various variants found in the TUBA1A gene associated with different medical conditions.
The TUBA1A variant database gathers data from various sources, including scientific articles, PubMed, and the Lissencephaly and Cerebellar Hypoplasia Database and Registry. It serves as a valuable resource for researchers and healthcare professionals interested in studying and understanding the role of the TUBA1A gene in neurological diseases.
Furthermore, these databases also provide information about other related genes, such as the α-tubulin and β-tubulin genes. These genes encode proteins called tubulins, which play important roles in cellular functions. Variants in α-tubulin and β-tubulin genes have also been linked to various neurological conditions.
Healthcare professionals can utilize these databases to access information about genetic variants and their potential implications. They can use this information to offer genetic testing for patients suspected of carrying a variant in a particular gene, such as TUBA1A, α-tubulin, or β-tubulin genes.
In conclusion, gene and variant databases are vital resources for researchers and healthcare professionals interested in understanding, diagnosing, and treating genetic disorders. These databases provide comprehensive information about gene variants, their association with various medical conditions, and the related scientific literature and references.
References
- Catalog of genes and diseases (https://www.ncbi.nlm.nih.gov/gene/7277)
- Sequence result for TUBA1A gene (https://www.ncbi.nlm.nih.gov/nuccore/NM_006009.2)
- The Human Gene Mutation Database (https://www.ncbi.nlm.nih.gov/genetests/gene/)
- OMIM: Online Mendelian Inheritance in Man (https://www.ncbi.nlm.nih.gov/omim)
- PubMed articles related to TUBA1A gene (https://pubmed.ncbi.nlm.nih.gov/?term=TUBA1A)
- Genetests: Clincial Genetic Testing Database (https://www.ncbi.nlm.nih.gov/genetests)