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The ATP6V1B1 gene, also known as the “ATPase H+ transporting accessory protein 1” gene, is listed in several scientific and clinical databases as being associated with various diseases and conditions related to renal and sensorineural changes. This gene is responsible for encoding a subunit of the vacuolar ATPase, a protein complex that transports protons into the inner part of the cell.

Changes in the ATP6V1B1 gene have been linked with the development of several renal tubular acidosis (RTA) subtypes, along with other conditions such as hearing loss and Distal renal tubular acidosis (DRTA) with sensorineural deafness. These associations have been identified through various research studies and are documented in databases such as OMIM and PubMed.

Additional information regarding the ATP6V1B1 gene, its variants, and associated health conditions can be found in these resources. Genetic testing and other diagnostic tests, such as urine and blood tests, may be available for identifying mutations or variants in this gene. Furthermore, the ATP6V1B1 gene is part of a larger catalog of genes involved in metabolic and related disorders.

References:

– OMIM: ATP6V1B1 gene

– PubMed: ATP6V1B1 gene

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– Genet Test Catalog: ATP6V1B1 gene

– ClinicalTrials.gov: ATP6V1B1 gene

– National Institutes of Health: ATP6V1B1 gene

These resources provide a wealth of scientific and clinical information, including research articles, clinical trials, and additional references, for individuals seeking more information on the ATP6V1B1 gene and its association with various health conditions.

Genetic changes in the ATP6V1B1 gene can lead to various health conditions. Some of these conditions are:

  • Distal renal tubular acidosis (dRTA): This condition is characterized by the inability of the kidneys to remove acid from the body, leading to an imbalance in the blood’s acid-base levels.
  • Vacuolar H+ ATPase (V-ATPase) pump-related disorders: Changes in the ATP6V1B1 gene can affect the function of the V-ATPase pump, which is responsible for regulating the acidity of the cell’s internal environment. These changes can result in various diseases and conditions related to the malfunctioning of the V-ATPase pump.
  • Deafness: Mutations in the ATP6V1B1 gene can also cause sensorineural hearing loss, which is a type of hearing loss that occurs due to damage to the inner ear or auditory nerve.

Further information about these health conditions related to genetic changes in the ATP6V1B1 gene can be found in scientific articles, databases, and other resources. The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for genetic information, including information on related diseases, genes, and genetic variants. PubMed is another useful resource for accessing scientific articles and references.

Clinical testing and genetic tests can be used to confirm the presence of genetic changes in the ATP6V1B1 gene and diagnose the associated health conditions. In addition, genetic testing can help identify individuals who may be at risk of developing these conditions or carry the genetic changes that can be passed on to future generations.

It is important to consult with healthcare professionals and genetic counselors for personalized advice and guidance regarding specific health conditions and the appropriate testing and management approaches.

Renal tubular acidosis with deafness

Renal tubular acidosis with deafness is a scientific condition that is also known as distal renal tubular acidosis (dRTA) with sensorineural deafness. It is a rare genetic disease characterized by the inability of the kidneys to properly control the acid-base balance in the body and the presence of sensorineural deafness.

Renal tubular acidosis (RTA) is a group of conditions that affect the normal functioning of the renal tubules, which are responsible for the reabsorption and secretion of various substances in the urine. The ATP6V1B1 gene plays a crucial role in the regulation of proton transport in the kidney, specifically in the distal tubules where acid is excreted into the urine. Mutations in the ATP6V1B1 gene can disrupt the activity of the proton pump, leading to impaired acid secretion and the development of RTA.

See also  CASK gene

The ATP6V1B1 gene is also associated with sensorineural deafness. The inner ear contains specialized cells that are responsible for converting sound vibrations into electrical signals that are interpreted by the brain as sound. The ATP6V1B1 gene is involved in maintaining the proper ion balance within these cells, and mutations in the gene can disrupt their function, leading to sensorineural deafness.

Diagnosis of renal tubular acidosis with deafness can be made through clinical evaluation and various tests. These may include blood and urine tests to assess acid-base balance, electrolyte levels, and kidney function. Genetic testing may also be performed to identify mutations in the ATP6V1B1 gene.

There are other types of renal tubular acidosis (RTA) that are not associated with deafness, including proximal RTA and hyperkalemic RTA. Each subtype of RTA is caused by different genetic mutations and has distinct clinical features.

For more information about renal tubular acidosis with deafness, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders.
  • PubMed: A database of articles from scientific journals.
  • The Genetic Testing Registry: A resource for information about genetic tests and related health conditions.

Other Names for This Gene

The ATP6V1B1 gene is also known by several other names, including:

  • Genet
  • Distal renal tubular acidosis (DRTA)
  • Deafness, sensorineural, with inner ear involvement and distal renal tubular acidosis (Distal renal tubular acidosis with deafness)
  • Distal renal tubular acidosis with progressive nerve deafness
  • H(+)-transporting two-sector ATPase, V1 subunit B, renal isoform 1
  • ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
  • ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1

These names reflect different aspects of the gene’s involvement in various health conditions and clinical tests. Some of these names are used in scientific publications, databases, and genetic testing resources.

For more information on related diseases and genes, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic conditions
  • PubMed – a database of scientific articles
  • Genetic Testing Registry – a voluntary registry of genetic tests and their variants

Additional changes in the ATP6V1B1 gene and their impact on metabolic and renal processes are still being studied. Clinical and genetic testing may provide more insights into the variant forms of ATP6V1B1 gene associated with renal tubular acidosis and hearing loss.

References:

  1. PubMed: ATP6V1B1 gene
  2. OMIM: ATP6V1B1 gene
  3. Genetic Testing Registry: ATP6V1B1 gene

Note: The information provided in this article is based on available scientific resources and should not be used for self-diagnosis or self-treatment.

Additional Information Resources

For additional information on the ATP6V1B1 gene and related conditions, the following resources may be helpful:

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic conditions. The ATP6V1B1 gene and related diseases, such as distal renal tubular acidosis (dRTA) and sensorineural hearing loss, are listed on OMIM. OMIM provides information on the genetic changes associated with these conditions, clinical features, and other related genes.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “ATP6V1B1 gene” or related keywords can provide access to scientific articles on the topic, including research on the function of the ATP6V1B1 gene, genetic testing, and related metabolic and renal conditions.
  • Genetic Testing Registry: The Genetic Testing Registry is a database that provides information on genetic tests available for various conditions. It lists tests that can detect variants in the ATP6V1B1 gene, such as DNA sequencing or urine testing for dRTA. The registry also includes information on the labs offering these tests and the clinical validity and utility of the tests.
  • Genetests: Genetests is a website that provides information on genetic conditions, genes, and testing. It offers resources for both healthcare providers and patients, including information on the diagnosis and management of conditions associated with the ATP6V1B1 gene.
  • Health Databases: There are various health databases and resources, such as MedlinePlus and WebMD, which provide information on distal renal tubular acidosis and related conditions. These resources offer information on symptoms, diagnosis, treatment options, and support services.

These resources can provide a wealth of information on the ATP6V1B1 gene, dRTA, and other related conditions. They can help individuals understand the genetic basis of these disorders, explore available testing options, and access information to guide clinical management and decision-making.

See also  DKC1 gene

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing and understanding various diseases. In the context of the ATP6V1B1 gene, several tests are listed in the Genetic Testing Registry that are related to disorders associated with this gene.

1. Distal renal tubular acidosis (dRTA): This test focuses on the genetic variants in the ATP6V1B1 gene that are related to distal renal tubular acidosis. This condition affects the renal tubules’ ability to properly transport substances and results in an acid imbalance in the body.

2. Sensorineural hearing loss: Another test listed in the registry is for sensorineural hearing loss, which is a type of deafness that is related to the ATP6V1B1 gene. This test helps in identifying the genetic variants associated with this condition.

3. Metabolic bone diseases: Genetic testing can also provide information on metabolic bone diseases linked to variations in the ATP6V1B1 gene. This gene plays a role in bone formation and mineralization, and variations can lead to bone-related disorders.

4. Other related conditions: In addition to the above-mentioned tests, the Genetic Testing Registry lists tests for various other clinical conditions related to the ATP6V1B1 gene. These conditions may include renal diseases, inner ear disorders, and metabolic conditions.

The Genetic Testing Registry provides additional information on these tests, including scientific names, references to articles and publications, and links to other relevant databases such as OMIM, PubMed, and GeneTests. It serves as a comprehensive catalog of genetic tests available for the ATP6V1B1 gene and related conditions.

By conducting these tests, healthcare professionals can gain valuable insights into the genetic variations in the ATP6V1B1 gene and their association with various health conditions. This information can aid in accurate diagnosis, personalized treatment plans, and genetic counseling.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of genetics and related health conditions. It provides a comprehensive collection of scientific literature and serves as a valuable resource for researchers, clinicians, and other healthcare professionals.

The ATP6V1B1 gene, also known as the vacuolar ATPase V1 subunit B1 gene, is associated with various renal diseases and sensorineural hearing loss. Mutations in this gene can lead to conditions such as distal renal tubular acidosis (dRTA), a metabolic acidosis characterized by the inability of the kidneys to effectively acidify urine.

PubMed offers a wealth of information on ATP6V1B1 gene-related conditions and testing methods. Researchers can find articles on the clinical presentation, diagnostic tests, and treatment options for these diseases. The articles listed on PubMed cover various aspects of these conditions, including their genetic basis, pathophysiology, and clinical management.

The PubMed database allows users to search for articles using various keywords and terms. By searching for “ATP6V1B1 gene” or “vacuolar ATPase V1 subunit B1 gene,” users can access a list of scientific articles that discuss this specific gene and its implications in renal diseases and hearing loss.

In addition to scientific articles, PubMed also provides access to other resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which contains information on genetic disorders. This catalog includes detailed descriptions of the ATP6V1B1 gene and its variants and provides references to relevant scientific literature.

Scientific articles on PubMed offer valuable insights into the role of the ATP6V1B1 gene in various health conditions. They provide information on diagnostic tests, treatment options, and ongoing research in this field. Researchers and healthcare professionals can utilize this information to further their understanding of these conditions and improve patient care.

In summary, PubMed is a valuable resource for accessing scientific articles on the ATP6V1B1 gene and its role in renal diseases and sensorineural hearing loss. It offers a comprehensive collection of scientific literature, including clinical studies, genetic research, and diagnostic guidelines. Researchers and healthcare professionals can utilize this database to stay updated with the latest advancements in this field and to improve patient outcomes.

Catalog of Genes and Diseases from OMIM

The ATP6V1B1 gene is associated with renal and hearing metabolic conditions. Mutations in this gene can lead to various disorders, including renal tubular acidosis (RTA) and sensorineural deafness. The ATP6V1B1 gene codes for a subunit of the vacuolar ATPase (V-ATPase), which is responsible for transporting protons into and out of cells. Changes in the ATP6V1B1 gene can disrupt the function of this pump, leading to abnormal levels of acidosis in the urine and other metabolic substances.

The OMIM catalog provides information on genes and their associated diseases. OMIM is a genetic database that lists and catalogs scientific articles, genetic testing resources, and clinical information related to various genetic disorders. In the case of the ATP6V1B1 gene, OMIM provides additional information on diseases such as distal renal tubular acidosis (dRTA) and sensorineural deafness. The catalog also includes references to related publications and resources, such as PubMed.

See also  ARMS2 gene

When testing for ATP6V1B1 gene variants, urine tests and genetic testing are commonly used to diagnose and confirm the presence of renal tubular acidosis and sensorineural deafness. These tests help medical professionals in identifying individuals with mutations in the ATP6V1B1 gene and provide appropriate treatment and management strategies.

In addition to ATP6V1B1, OMIM catalogs other genes and diseases. It serves as a comprehensive resource for researchers, healthcare professionals, and patients seeking information on genetic disorders. The database allows users to search for specific genes, browse through gene-disease associations, and access relevant scientific articles and clinical information.

Examples of diseases associated with the ATP6V1B1 gene:
Disease Name OMIM ID
Distal renal tubular acidosis (dRTA) 267300
Sensorineural deafness 601545

By providing a comprehensive catalog of genes and diseases, OMIM plays a crucial role in advancing scientific research and understanding of genetic conditions. It serves as a valuable resource for healthcare providers, researchers, and individuals seeking information and resources related to genetic disorders.

Reference:

Gene and Variant Databases

The ATP6V1B1 gene is a key gene involved in the regulation of the inner ear’s acid-base balance and plays a crucial role in maintaining the function of the renal tubular acidosis (RTA) pump.

For researchers and clinicians working with this gene, there are several gene and variant databases available that provide valuable resources and information.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that contains information on thousands of genes, including ATP6V1B1. It provides details on gene function, mutant gene variants, associated diseases, and clinical descriptions.
  • PubMed: PubMed is a widely used resource for scientific articles and research papers. Researchers can find a wealth of information on the ATP6V1B1 gene and its various variants, as well as related diseases and conditions.
  • GeneTests: GeneTests is a database that focuses on genetic testing information. It provides details on which tests are available for different genes, including ATP6V1B1, and how to interpret the results.

In addition to these databases, there are other resources that can be helpful for understanding the ATP6V1B1 gene and its variants.

The Genetic Testing Registry (GTR) is a centralized registry of genetic tests offered by laboratories worldwide. It provides information on which laboratories offer testing for ATP6V1B1 and the specific tests they provide.

The Human Gene Mutation Database (HGMD) is a comprehensive collection of disease-causing mutations in human genes. Researchers can find information on ATP6V1B1 gene mutations associated with various diseases, including renal tubular acidosis and sensorineural hearing loss.

The Clinical Genomic Database (ClinGen) is a resource that aims to improve the understanding of the clinical relevance of genetic variants. It provides curated information on the pathogenicity of different gene variants, including those in ATP6V1B1.

These databases and resources provide researchers and clinicians with a wealth of information on the ATP6V1B1 gene, its variants, and related diseases. By accessing these databases, scientists can stay up-to-date on the latest research findings and clinical implications of ATP6V1B1 gene variations.

References

The following is a list of scientific resources and information related to the ATP6V1B1 gene:

  • OMIM: The Online Mendelian Inheritance in Man database provides clinical and genetic information about various conditions and diseases related to the ATP6V1B1 gene. It also lists additional genes and genetic changes that may be associated with these conditions. (Source: OMIM)
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on the ATP6V1B1 gene and its role in various physiological processes and diseases. (Source: PubMed)
  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for the ATP6V1B1 gene. It includes information about the purpose of the tests, the conditions they can detect, and other relevant details. (Source: Genetic Testing Registry)
  • Genetics Home Reference: The Genetics Home Reference is a comprehensive resource that provides information about genes, genetic testing, and genetic conditions. It offers detailed information about the ATP6V1B1 gene, including its association with diseases such as distal renal tubular acidosis (DRTA) and sensorineural hearing loss. (Source: Genetics Home Reference)

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