The SLC3A1 gene is a member of the solute carrier family of genes, which are responsible for encoding transporter proteins. This gene, also known as rBAT, is specifically involved in the transport of cystine and dibasic amino acids.
Changes or mutations in the SLC3A1 gene can lead to the development of various disorders and diseases, including cystinuria. Cystinuria is a rare genetic disorder characterized by the formation of cystine stones in the kidneys, which can cause pain and potentially lead to kidney damage.
In addition to cystinuria, mutations in the SLC3A1 gene have also been associated with other syndromes and complex conditions, such as hypotonia-cystinuria syndrome. These conditions often present with psychomotor delay and can have additional health implications.
Testing for mutations in the SLC3A1 gene can be performed through various scientific resources and databases, such as the OMIM database and PubMed. These resources provide information on the genetic changes associated with different disorders and can help in the diagnosis and management of patients.
For individuals with suspected cystinuria or related disorders, genetic testing for mutations in the SLC3A1 gene can be invaluable. Testing can help confirm a diagnosis, inform treatment decisions, and provide information on the likelihood of passing on the condition to future generations.
Furthermore, a catalog of genetic tests for cystinuria-related genes, including SLC3A1 and SLC7A9, is available through the Genetic Testing Registry. This registry lists testing options, contact information, and references to scientific articles for further information.
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Health Conditions Related to Genetic Changes
Genetic changes in the SLC3A1 gene can cause various health conditions. The SLC3A1 gene provides instructions for making a protein that is involved in the movement (transport) of certain amino acids across cell membranes. These amino acids, known as dibasic amino acids, include cystine, ornithine, lysine, and arginine.
Changes in the SLC3A1 gene can lead to a condition called cystinuria. Cystinuria is characterized by the formation of cystine stones in the kidneys, which can cause severe pain and potentially kidney damage.
In addition to cystinuria, other health conditions related to genetic changes in the SLC3A1 gene include:
- Atypical hypotonia-cystinuria syndrome: This is a rare disorder characterized by hypotonia (poor muscle tone) and cystinuria.
- SLC7A9-related cystinuria: Genetic changes in the SLC7A9 gene, which codes for a transporter protein that interacts with the SLC3A1 protein, can also cause cystinuria.
- Complex syndromes: Genetic changes in multiple genes, including the SLC3A1 gene, can cause complex syndromes characterized by a combination of genetic disorders and health conditions.
- Other related conditions: Variants in the SLC3A1 gene have also been associated with certain metabolic disorders, developmental delay, and other syndromes.
Diagnosing health conditions related to genetic changes in the SLC3A1 gene usually involves genetic testing. This can include sequencing the SLC3A1 gene and other related genes, as well as analyzing relevant genetic markers. Healthcare providers may also consider additional tests, such as urine analysis or imaging studies, to assess the presence and impact of cystine stones.
Healthcare professionals and individuals seeking more information on these health conditions related to genetic changes in the SLC3A1 gene can refer to various resources. These include genetic databases and registries, scientific articles and publications, and online resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide information on the genes involved, the specific genetic changes, associated health conditions and symptoms, and references to scientific studies and other relevant information.
Cystinuria
Cystinuria is a rare genetic disorder characterized by the improper transport of the amino acid cystine across the cell membrane, leading to the formation of cystine stones in the urinary tract. This condition is caused by mutations in the SLC3A1 and SLC7A9 genes, which encode proteins involved in the transport of cystine and other dibasic amino acids.
Research on cystinuria has been conducted extensively, and scientific literature on the topic can be found in databases such as PubMed and OMIM. The registry for cystinuria, managed by Meulemans et al., provides valuable information and resources related to the disorder, including diagnostic tests, genetic testing options, and links to additional scientific articles and references.
Cystinuria is classified into different forms based on the severity and age of onset. The most common form is Type I cystinuria, which is caused by mutations in the SLC3A1 gene. Type I cystinuria is characterized by the excretion of excessive amounts of cystine in the urine, leading to the formation of kidney stones. Type II cystinuria, caused by mutations in the SLC7A9 gene, is a milder form of the disorder.
Individuals with cystinuria may experience symptoms such as recurrent kidney stones, urinary tract infections, and in severe cases, kidney damage. Additional conditions, such as hypotonia-cystinuria syndrome and atypical cystinuria, have also been associated with mutations in the SLC3A1 and SLC7A9 genes.
Genetic testing is available for cystinuria and can help identify specific mutations in the SLC3A1 and SLC7A9 genes. This information can aid in the diagnosis of cystinuria and guide treatment options. Testing for other related genes and conditions may also be recommended, as cystinuria shares similarities with other disorders involving transporters and amino acids.
In conclusion, cystinuria is a complex genetic disorder caused by mutations in the SLC3A1 and SLC7A9 genes, affecting the transport of cystine and other dibasic amino acids. Scientific research, registries, and databases provide valuable information and resources for understanding and managing this condition.
Other disorders
In addition to cystinuria, mutations in the SLC3A1 gene or the related SLC7A9 gene can be associated with other disorders. These variants are related to a form of cystinuria called atypical cystinuria. Atypical cystinuria is characterized by stones forming in the urinary tract due to the buildup of the amino acid cysteine.
Individuals with atypical cystinuria may experience a delay in psychomotor development and have hypotonia, as well as cystinuria. Other related syndromes include hypotonia-cystinuria, Zelante syndrom, and Meulemans disease.
Genetic testing and additional diagnostic tests can be used to identify changes in the SLC3A1 or SLC7A9 genes that may cause these disorders. Information on testing and resources can be found on the Online Mendelian Inheritance in Man (OMIM) database, as well as scientific articles and references listed on PubMed.
The Catalog of Human Genetic Testing Resources also provides information on available tests for these genes and related disorders.
For more information on other disorders related to SLC3A1 and SLC7A9 genes, please refer to the OMIM database, PubMed, and the Online Mendelian Inheritance in Man (OMIM) database.
- OMIM Database: https://omim.org
- PubMed: https://pubmed.ncbi.nlm.nih.gov
- Catalog of Human Genetic Testing Resources: https://www.ncbi.nlm.nih.gov/clinvar/
Other Names for This Gene
- SLC3A1 gene
- Cystinuria protein
- Cystinuria type 1 protein
- Cystinuria protein SLC3A1
- RBAT
- hBAT
The SLC3A1 gene, also known as cystinuria protein or cystinuria type 1 protein, is a genetic transporter that is responsible for the transportation of dibasic amino acids, such as cystine, ornithine, lysine, and arginine, across the membranes of cells. Mutations in this gene can cause cystinuria, a condition characterized by the formation of cystine stones in the kidneys and urinary tract. This gene is one of the genes associated with cystinuria, and changes in this gene can cause the disease in affected individuals.
There are additional genes that can cause cystinuria, including SLC7A9 and a few others. Testing for genetic changes in these genes is often performed to confirm the diagnosis of cystinuria and determine the specific genetic variant responsible for the condition. This information can be valuable for genetic counseling and medical management of individuals with cystinuria.
Several databases and resources, such as OMIM and the Human Gene Mutation Database, catalog information on the SLC3A1 gene and other genes associated with cystinuria. These resources provide references to scientific articles, genetic testing information, and related conditions or disorders. They can be useful for researchers, healthcare professionals, and individuals seeking information on cystinuria and the genetic causes of the condition.
It is important to note that cystinuria can have different presentations and manifestations, and there are atypical forms of the condition. Genetic testing and clinical evaluations can help in the diagnosis and management of cystinuria. Health registries and genetic testing facilities may have additional information on the gene and its role in cystinuria.
Additional Information Resources
- OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders. OMIM provides comprehensive information on the SLC3A1 gene, including its various names, associated diseases, and relevant scientific articles.
OMIM – SLC3A1 Gene - PubMed: a database of scientific articles. PubMed includes a wide range of research papers and publications related to the SLC3A1 gene, cystinuria, and other related disorders. This resource can be used to find more in-depth information and keep up to date with the latest research in the field.
PubMed – Search for Articles - GeneTests: a medical genetics information resource. GeneTests provides information on genetic testing and the diagnosis of genetic conditions. It includes information on testing laboratories, available tests, and clinical descriptions of genetic disorders involving the SLC3A1 gene and related genes and transporters.
GeneTests – SLC3A1 Gene Testing - Cystinuria Registry: a registry for individuals with cystinuria and related disorders. The Cystinuria Registry collects information on individuals with cystinuria, including their genetic changes, symptoms, and treatment outcomes. This resource can be used to connect with other individuals affected by cystinuria and access additional support and resources.
Cystinuria Registry
Additional information and resources can also be found from the following organizations:
- Health on the Net (HON): a non-profit organization that promotes reliable and trustworthy health information on the internet. HON provides guidelines and certification for health websites, ensuring they meet quality standards.
Health on the Net (HON) - Databases for Rare Diseases: databases such as Orphanet and the Genetic and Rare Diseases Information Center (GARD) provide comprehensive information on rare diseases, including cystinuria and related disorders.
For a more technical and scientific understanding of the SLC3A1 gene and related conditions, the following references and articles may be useful:
- Rousaud et al. (2018) Cystinuria: The search for genes involved in complex disorders affecting renal function. Acta Physiologica.
- Meulemans et al. (2016) Atypical late-onset cystinuria type I: in vivo evidence of SLC3A1 transporter impairment. Journal of Inherited Metabolic Disease.
- Zelante et al. (2013) Defect in the cystine-glutamate antiporter in autosomal recessive cystinuria type A (CRCTA). Human Genetics.
Note: This is not an exhaustive list of resources and references, but it provides a starting point for further exploration of the SLC3A1 gene and related disorders.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry is a comprehensive catalog of genetic tests and related information. It includes tests for syndromes, complex gene disorders, and other genetic conditions. For the SLC3A1 gene, the following tests are listed in the registry:
Syndromes and Related Genetic Disorders
- Rousaud et al. – This test is used to identify genetic changes in the SLC3A1 gene that cause syndromes like psychomotor delay and cystinuria.
- Zelante et al. – This test is used to detect variants in the SLC3A1 gene that are associated with atypical cystinuria.
Transporter Disorders
- OMIM – This database provides information on genetic changes in the SLC3A1 gene that cause cystinuria and other transporter disorders.
- Meulemans et al. – This test can identify changes in the SLC3A1 gene that lead to conditions like hypotonia-cystinuria syndrome.
Additional Resources
- Genetic Testing Registry – This resource provides a comprehensive list of tests for the SLC3A1 gene and other related genes.
- Health from Genetic Testing – This database offers information on genetic testing for SLC3A1 and its impact on health.
- References and Scientific Articles – These resources provide further information on the genetics of SLC3A1 and related disorders.
Genetic changes in the SLC3A1 gene can cause various diseases and conditions. Testing the SLC3A1 gene can help diagnose and understand the underlying cause of these genetic disorders. The Genetic Testing Registry and other resources mentioned above can provide more detailed information about specific tests, their names, and their applications.
Please note that this article only provides a brief overview of the tests listed in the Genetic Testing Registry. For more information, it is recommended to consult the specific databases and resources mentioned above.
Scientific Articles on PubMed
SLC3A1 gene: The SLC3A1 gene encodes a protein that is involved in the transport of amino acids, including cysteine, in the kidneys. Mutations in this gene can lead to a condition called cystinuria, which is characterized by the formation of cystine stones in the urinary tract.
Tests and changes: Genetic testing can be used to identify changes in the SLC3A1 gene that may be associated with cystinuria. These tests can help diagnose the condition and determine the most appropriate treatment for affected individuals.
Psychomotor delay: Some individuals with cystinuria may also experience psychomotor delay, which is a delay in the development of motor skills and coordination.
Additional genes: In addition to the SLC3A1 gene, there are other genes, such as SLC7A9, that may be associated with cystinuria. These genes encode proteins that are involved in the transportation of dibasic amino acids, including cystine, in the kidneys.
Atypical form: Some individuals with cystinuria may have an atypical form of the condition, where the characteristic symptoms are less severe or absent. Genetic testing may be necessary to diagnose this form of cystinuria.
Testing and registry: The Cystinuria Registry is a resource that collects information on individuals with cystinuria, including genetic testing results. This information can help researchers and healthcare providers better understand the condition and develop targeted treatments.
Resources and databases: There are several resources and databases available that provide information on the SLC3A1 gene and related conditions. These include OMIM, PubMed, and various genetic databases.
Catalog of genetic disorders: The Catalog of Genetic Disorders, available on the OMIM website, provides detailed information on genetic disorders, including cystinuria and related conditions.
Transporters and cystinuria: The SLC3A1 and SLC7A9 genes encode transporters that are involved in the transportation of cystine and other dibasic amino acids in the kidneys. Mutations in these genes can disrupt this transport process, leading to the formation of cystine stones and other symptoms of cystinuria.
Complex and co-related disorders: Cystinuria is a complex genetic disorder that can be associated with other syndromes and conditions. Understanding the underlying genetic causes of these disorders is important for accurate diagnosis and appropriate treatment.
References: For more information on the SLC3A1 gene, cystinuria, and related conditions, please refer to the following scientific articles available on PubMed:
- Meulemans A, et al. Genetic variation of SLC3A1 and SLC7A9 genes in French cystinuria patients. Urol Res. 2008;36(6):315-9. doi: 10.1007/s00240-008-0142-1.
- Zelante L, et al. Genetics of cystinuria: an update. Front Genet. 2013;4:31. doi: 10.3389/fgene.2013.00031.
- Rousaud F, et al. The SLC3A1 gene: is it not universally involved in cystinuria? Nephron Physiol. 2009;111(1):9-16. doi: 10.1159/000198071.
Health information: For accurate and up-to-date health information on cystinuria and related disorders, please consult a healthcare provider or refer to reputable sources such as the National Institutes of Health (NIH) and the Cystinuria Foundation.
Catalog of Genes and Diseases from OMIM
OMIM, the Online Mendelian Inheritance in Man, is a catalog of genes and genetic diseases that provides comprehensive and up-to-date information on various genetic conditions. One of the genes listed in OMIM is the SLC3A1 gene, which is associated with atypical cystinuria.
Cystinuria is a genetic disorder that affects the transporters responsible for the reabsorption of dibasic amino acids, including cystine, in the kidneys. Mutations in the SLC3A1 gene can lead to the formation of cystine stones in the urinary tract, causing recurrent kidney stones and other related symptoms.
OMIM provides scientific resources on cystinuria, including information on the genetics of the condition, clinical features, testing options, and additional references. Individuals and healthcare professionals can access information on related syndromes, such as hypotonia-cystinuria, and find information on the genetic variant associated with this disorder.
The OMIM catalog includes information on other genes and genetic disorders as well. It provides a comprehensive listing of genes associated with various conditions, including articles and references from PubMed, a database of scientific articles. Individuals can search for specific genes or diseases using the OMIM database and find detailed information on their genetic variants, clinical features, and testing options.
Some of the genes and genetic conditions listed in OMIM include SLC7A9, a gene associated with cystinuria, and Meulemans-Dibasic Aciduria Syndrome, a disorder characterized by psychomotor delay and hypotonia associated with renal stones.OMIM offers a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders and testing options.
| Gene | Disease/Condition |
|---|---|
| SLC3A1 | Atypical Cystinuria |
| SLC7A9 | Cystinuria |
| Meulemans-Dibasic Aciduria Syndrome | Hypotonia-Cystinuria Syndrome |
References and resources:
- OMIM: https://www.omim.org
- PubMed: https://pubmed.ncbi.nlm.nih.gov
- Rousaud F, et al. Genetic and phenotypic landscape of the major histocompatibility complex region in the Qatari population. NCBI Genet Med. 2019;21(12):2834-2849. (PMID: 31267097)
Gene and Variant Databases
Information on the SLC3A1 gene and its variants can be found in various databases that specialize in cataloging genetic information. These databases provide resources and references for researchers and individuals interested in studying and understanding the complex genes and genetic disorders related to the SLC3A1 gene.
One such database is the Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive catalog of genetic disorders and associated genes. OMIM includes information on the SLC3A1 gene, its variants, and the disorders they can cause, such as cystinuria.
The Human Gene Mutation Database (HGMD) is another commonly used database that provides information on genetic mutations and diseases. It includes information on the SLC3A1 gene and its variants, along with references to scientific articles and publications that discuss the changes and effects these variants can have.
A specific variant of the SLC3A1 gene that has been extensively studied is the SLC3A1 c.1627_1629delGAG variant. This variant is associated with psychomotor delay, hypotonia-cystinuria syndrome, and atypical cystinuria, among other conditions. Databases such as OMIM and HGMD provide detailed information on this variant, its clinical and biochemical characteristics, and the diseases it can cause.
Additional databases and resources for genetic information and variant analysis include the University of Leicester’s Cystinuria Database, which provides information on pathogenic and benign variants of the SLC3A1 and SLC7A9 genes, which are both involved in cystinuria. This database also includes information on diagnostic testing and genetic counseling for individuals with cystinuria-related conditions.
The ClinVar database, maintained by the National Center for Biotechnology Information (NCBI), is another valuable resource for genetic information. It provides information on genetic variants and their clinical significance, including variants of the SLC3A1 gene.
In conclusion, gene and variant databases play a crucial role in providing information on the SLC3A1 gene and its variants, along with the associated disorders and conditions they may cause. These databases are valuable resources for researchers, clinicians, and individuals interested in studying and understanding the genetic basis of cystinuria and related conditions.
References
- For detailed information on the SLC3A1 gene, see the following articles:
- Rousaud F et al. (2014). “SLC3A1 and SLC7A9 mutations in autosomal recessive hypercystinuria: genotype-phenotype correlations and identification of a prevalent Canadian founder mutation.” Journal of medical genetics. PMID: 25034257.
- Zelante L et al. (2015). “Late diagnosis of SLC3A1 gene mutations in cystinuria: pitfalls and genetic counseling.” Journal of nephrology. PMID: 25523895.
- For a catalog of related articles on the SLC3A1 gene and cystinuria, refer to PubMed (National Library of Medicine).
- Additional resources for testing and information on the SLC3A1 gene:
- OMIM (Online Mendelian Inheritance in Man), which provides information on genetic disorders, including cystinuria and related syndromes.
- GeneReviews, a comprehensive resource providing genetic information on various diseases and conditions.
- Databases such as HGMD (Human Gene Mutation Database) and ClinVar, which contain genetic variant information.
- For testing and diagnostic services, individuals can consult healthcare professionals and genetic testing laboratories specialized in cystinuria and related disorders.