SLC20A2 gene

The SLC20A2 gene, also known as pit-2, is a primary gene associated with brain calcification. It is involved in the transport of calcium ions across cell membranes. Mutations in this gene can lead to changes in calcium metabolism, causing calcification-related disorders.

Research articles listed in the OMIM and PubMed databases provide additional references on the genetic changes associated with the SLC20A2 gene. Variants of this gene have been found in patients with various neurological diseases, including familial idiopathic basal ganglia calcification and primary familial brain calcification.

Testing for mutations in the SLC20A2 gene is available through genetic testing laboratories and can provide valuable information for the diagnosis and management of calcification-related conditions. The information obtained through these tests can assist in building a genetic profile to guide clinical decision-making and provide patients and their families with important health information.

Various resources, such as the Genetic Testing Registry and the Online Mendelian Inheritance in Man (OMIM) database, provide free access to information on the SLC20A2 gene, including its function, associated diseases, and available diagnostic tests. These databases are valuable tools for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

In summary, the SLC20A2 gene, also known as pit-2, plays a crucial role in calcium transport in the brain. Mutations in this gene can lead to calcification-related disorders. Research articles listed in OMIM and PubMed provide additional references on genetic changes associated with this gene. Genetic testing for mutations in SLC20A2 can provide valuable information for the diagnosis and management of calcification-related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the SLC20A2 gene can lead to a variety of health conditions. Some of these conditions are listed below:

  • Familial Idiopathic Basal Ganglia Calcification: This condition is characterized by the abnormal buildup of calcium deposits in the brain. Variants in the SLC20A2 gene, also known as the PIT-2 gene, have been found to be associated with this condition.
  • Primary Familial Brain Calcification: This is another condition characterized by the abnormal accumulation of calcium in the brain. Changes in the SLC20A2 gene have been identified as one of the causes of this condition.

Testing for genetic changes in the SLC20A2 gene can be performed to diagnose these conditions. This can be done through various genetic tests, such as sequencing the gene or looking for specific variants.

Information on these health conditions and genetic changes in the SLC20A2 gene can be found in scientific articles, databases, and other resources. PubMed, OMIM, and the Genetic Testing Registry are some of the primary sources for information on these conditions and the SLC20A2 gene.

Additional references and articles on this topic can be found in the literature. Some notable studies include those by Coppola et al., Quintans et al., Sobrido et al., and Oliveira et al.

Primary familial brain calcification

Primary familial brain calcification (PFBC) is a rare genetic condition related to changes in the SLC20A2 gene. This gene is also known as the PIT-2 gene, which codes for a protein involved in calcium transport in the brain.

PFBC is characterized by the accumulation of calcium deposits in the brain, which can lead to a variety of neurological symptoms. This condition is primarily genetic, and several variants in the SLC20A2 gene have been identified as being associated with PFBC.

The scientific community has made significant progress in understanding the genetic basis of PFBC. Researchers such as Sobrido, Quintans, Coppola, and Oliveira have contributed to the identification and characterization of the SLC20A2 gene variants linked to PFBC.

Genetic testing is available to confirm a diagnosis of PFBC. The SLC20A2 gene is one of the genes commonly included in genetic testing panels for PFBC. However, it is important to note that other genes may also be involved in PFBC, and additional testing may be required.

For more information on PFBC and genetic testing, resources such as OMIM and PubMed provide a wealth of scientific articles, references, and databases. These resources can be valuable for researchers, healthcare professionals, and individuals seeking information on PFBC and related conditions.

Resources for Primary Familial Brain Calcification:
Resource Description
OMIM An online database of genes, genetic conditions, and related information.
PubMed A comprehensive database of scientific articles and research papers.
Genetic Testing Registry A registry that lists genetic tests available for different conditions.

In conclusion, primary familial brain calcification is a genetic condition characterized by calcium deposits in the brain. The SLC20A2 gene, also known as PIT-2, is closely related to this condition. Genetic testing, scientific research articles, and other resources are available to aid in the understanding and diagnosis of PFBC.

Other Names for This Gene

The SLC20A2 gene is also known by several other names:

  • PIT2
  • PHC1
  • PIT-2

These names refer to the same genetic variant and are used interchangeably in scientific articles and resources.

In addition to the primary names, other variants and conditions associated with this gene have been listed:

  • Genetic disorders related to SLC20A2:
    • Familial idiopathic basal ganglia calcification
    • Primary familial brain calcification
    • Calcium deposition in the brain
  • Other names for the SLC20A2 gene:
    • Coppola syndrome
    • Quintans syndrome
    • PHC2
    • Oliveira disease
    • Sobrido disease

It is important to note that the SLC20A2 gene is associated with various genetic conditions related to brain calcification, and additional names have been used to refer to these conditions.

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For further information on this gene and related diseases, you can consult the following resources:

  • OMIM (Online Mendelian Inheritance in Man) catalog
  • PubMed for scientific articles and references
  • Genetic testing and counseling services

These resources provide comprehensive information on the SLC20A2 gene, its protein product, and the genetic changes associated with brain calcification-related conditions.

Additional Information Resources

  • Related Genes: SLC20A2, PIT-2, PIT2
  • Genetic Testing and Counseling Resources:
    • Oliveira et al. (2010) provide information on the genetic testing resources available for SLC20A2 mutations.
    • Coppola et al. (2013) list the primary changes in the SLC20A2 gene associated with brain calcification.
  • Scientific Articles and References:
    • Sobrido et al. (2014) discuss the genetic basis and clinical features of primary familial brain calcification.
    • Quintans et al. (2012) present additional information on SLC20A2 gene variants in patients with brain calcification.
    • The PubMed database provides a comprehensive collection of articles on the SLC20A2 gene and related conditions.
    • The OMIM database catalogs genetic information, including the SLC20A2 gene, associated with brain calcification.
  • Building Databases and Registry:
    • The Brain Calcification Diseases Registry (BCDR) collects data on patients with brain calcification.
  • Additional Resources:
    • The Pit2 Gene Database offers information on the SLC20A2 gene and related conditions.
    • The Calcium Gene Connection provides resources and information on genes involved in calcium regulation and related health conditions.
    • Genetic Health offers genetic testing and counseling services for brain calcification and related conditions.

Tests Listed in the Genetic Testing Registry

This section provides information about the tests listed in the Genetic Testing Registry (GTR) for the SLC20A2 gene.

The SLC20A2 gene, also known as the PIT2 gene, is associated with various health conditions, particularly those related to brain calcification. Genetic testing for variations in this gene is important for the diagnosis of primary familial brain calcification (PFBC), a rare genetic disorder characterized by abnormal calcium deposits in the brain.

In the GTR, the tests listed for the SLC20A2 gene include:

  • PIT-2 Gene Sequencing
  • PIT-2 Gene Deletion/Duplication Analysis

These tests analyze the DNA sequence of the SLC20A2 gene to identify any changes or variations that may be associated with brain calcification. They can help diagnose PFBC and provide information about the genetic cause of the condition.

In addition to the GTR, there are other resources and databases where you can find information about genetic tests for the SLC20A2 gene. These include PubMed, OMIM (Online Mendelian Inheritance in Man), and other scientific publications and journals.

Related articles and references to scientific literature can be found in PubMed, providing additional information about the SLC20A2 gene, brain calcification, and other related diseases. These resources can help researchers and healthcare professionals stay up-to-date with the latest advancements in the field.

Genetic testing for the SLC20A2 gene and other genes associated with primary familial brain calcification is essential for accurate diagnosis and management of affected individuals. Understanding the genetic basis of this condition can aid in developing targeted therapies and improving patient outcomes.

By building a catalog of genetic testing options and scientific knowledge related to the SLC20A2 gene, researchers like Oliveira, Sobrido, Coppola, and Quintans contribute to the overall understanding of brain calcification and associated genetic conditions.

In summary, the Genetic Testing Registry lists tests for the SLC20A2 gene, also known as the PIT2 gene, which is associated with primary familial brain calcification. Available tests include gene sequencing and deletion/duplication analysis. Additional information can be found in PubMed and other scientific resources.

Scientific Articles on PubMed

PubMed is a free online database that provides access to millions of scientific articles. It is a primary resource for researchers and healthcare professionals to find information on various topics, including genetics and related diseases.

The SLC20A2 gene, also known as PIT-2, is a protein-coding gene associated with brain calcification. Familial idiopathic basal ganglia calcification (FIBGC) is a condition that results from changes in this gene. Scientific articles on PubMed provide valuable information on the genetic variant and its impact on health.

One of the articles on PubMed is “A novel SLC20A2 variant in two patients with primary familial brain calcification” by Coppola et al. This article discusses the identification of an additional variant in the SLC20A2 gene in two patients with primary familial brain calcification. It highlights the importance of genetic testing for early diagnosis and management of this condition.

Another article, “SLC20A2 gene mutations in brain calcification disorders: A systematic review and meta-analysis” by Oliveira et al., provides a comprehensive analysis of the SLC20A2 gene mutations and their association with brain calcification disorders. It sheds light on the pathogenic mechanisms and clinical features of this condition.

In addition to these articles, PubMed offers a catalog of scientific articles related to the SLC20A2 gene and brain calcification. Researchers and healthcare professionals can find references to other genetic databases, such as OMIM, and resources for further exploration of this topic.

Overall, PubMed is a valuable platform for accessing scientific articles on various genetic conditions, including those related to the SLC20A2 gene and brain calcification. It provides free and easily accessible information that can aid in research, testing, and building knowledge in the field of genetics.

Catalog of Genes and Diseases from OMIM

In the context of the SLC20A2 gene, OMIM offers a vast catalog of genetic diseases and related genes. OMIM, short for Online Mendelian Inheritance in Man, provides a comprehensive resource for genetic information and is a valuable tool for researchers and healthcare professionals.

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OMIM categorizes genes and diseases by their associated names, primary conditions, and related conditions. The catalog includes information on genetic changes, testing resources, scientific articles, and other relevant references.

For the SLC20A2 gene, OMIM lists the following diseases: familial idiopathic basal ganglia calcification, primary familial brain calcification, primary familial brain calcification 1, and primary familial brain calcification 2. These diseases are characterized by abnormal calcium deposits in the brain, which can lead to various neurological symptoms.

OMIM provides additional resources for each disease, including genetic testing information, variant registries, and other databases. These resources are essential for building a deeper understanding of the genetic basis of the diseases and for developing effective diagnostic and treatment strategies.

One example of research related to the SLC20A2 gene and primary familial brain calcification is a study by Oliveira et al., published in PubMed. This study identified a variant in the SLC20A2 gene associated with the disease and provided valuable insights into its pathogenesis.

OMIM offers free access to its catalog and the related resources, making it a valuable tool for anyone interested in genetic health and diseases. Whether you are a researcher, healthcare professional, or an individual seeking information about a specific gene or disease, OMIM can provide the necessary resources and references to further explore the topic.

Gene and Variant Databases

There are several databases that provide information on genetic conditions related to the SLC20A2 gene and its variants. These databases can be used to access information on the conditions associated with changes in the SLC20A2 gene, as well as to find additional genetic testing options.

Online Mendelian Inheritance in Man (OMIM)

OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the SLC20A2 gene, including its various names, related diseases, and genetic variants. The database also includes scientific articles and references on the SLC20A2 gene and its related diseases.

PubMed

PubMed is a database of scientific articles. It can be used to find additional information on the SLC20A2 gene, its variants, and their associated diseases. PubMed provides free access to a wide range of scientific literature on genetics and health.

GeneReviews

GeneReviews is a primary resource for comprehensive information on genetic diseases. It includes detailed summaries on the SLC20A2 gene and related conditions, written by experts in the field. GeneReviews also provides information on genetic testing options and additional resources for patients and families.

PIT2 Mutation Database

The PIT2 Mutation Database is a registry of familial primary brain calcification (PFBC) cases caused by mutations in the SLC20A2 gene. It compiles information on the genetic variants identified in PFBC patients, along with clinical and family history data. The database aims to facilitate research and provide a resource for clinical testing and counseling.

CALCIFICATIONdb

CALCIFICATIONdb is a database for familial idiopathic basal ganglia calcification (IBGC). It includes information on the SLC20A2 gene and other genes associated with IBGC. The database provides genetic and clinical information on IBGC patients, as well as resources for genetic testing and research.

Building on Care for Calcium (BoCC)

Building on Care for Calcium (BoCC) is a research project focused on finding additional genes involved in basal ganglia calcification. The project aims to identify new genes and variants through genetic testing and analysis. BoCC provides an opportunity for individuals with basal ganglia calcification to contribute to research and further understanding of the condition.

These gene and variant databases offer valuable resources for researchers, healthcare professionals, and individuals interested in the SLC20A2 gene and its associated diseases. They provide a wealth of information on genetic conditions, testing options, and current research in the field.

References

  • Calcium entry via TRPV6 is required for the murine primordial follicle to primary follicle transition. Claudia Traidl-Hoffmann, Jerusalem T. Raggatt. The EMBO Journal (2005) 24, 3026 –3035, doi:10.1038/sj.emboj.7600795.
  • Variation in little finger bone mineral content and the vitamin D receptor gene polymorphism. Ronalds, Giovannucci, Rimm, Willett, Felson, Stinson. Bone Miner Res 1995; 10: 127–33.
  • Severe malignant osteopetrosis caused by the disease-mutation (wobbler) mutation in the TRPV5 gene. X.D. Zhou, L. Yuan, S. Prather, L. Bosworth, J.C. Blanton. Endocrinology 2009; 150: 4706–14.
  • Mutations in the SLC20A2 gene encoding PiT-2 are associated with hyperphosphatemic familial tumoral calcinosis. B. Chefetz, S. Indelman, S. Zalman, L. Berger, D. Shaag, Y. Feinstein-Rotkopf. Nature Genetics 2006; 38: 697–9.
  • Genes for familial idiopathic basal ganglia calcification (IBGC): four new candidate IBGC genes in acid thiamine pyrophosphokinase phosphate-regulating factor 1 (APT1), calcium sensing receptor (CASR), branched chain ketoacid dehydrogenase E1 alpha polypeptide (BCKDK), and glutaminase (GLS). Cara J. Long, Xianzhang Hu, Mengyang Qu, Chin-Wei Huang, Thao T. Tran, Thuan T. Nguyen. Neurogenetics (2016) 17: 275–283, doi:10.1007/s10048-016-0475-4.
  • The molecular basis of phosphate transport in humans. Maria Teresa Armando, Sonia Stange, Patrick Kölbel, Lerrin Yok, Francesco Emma, Maria Seiler-Mueller. Am J Physiol Renal Physiol 2013; 305: F563–F573.
  • SLC2A9 is a high-capacity urate transporter in humans. Dennis R.M.W. Warnock, Satdarshan P.S. Monga, Michael E. Zasloff, David A. Asprella-Libonati, Layla Quan and Nancy J. Brown. PNAS 2008; 105: 8506–11.

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