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The SLC7A7 gene is a genetic variant related to lysinuric protein intolerance (LPI). LPI is a rare metabolic disorder that affects the transport of amino acids in the body. The SLC7A7 gene provides instructions for making a protein that is involved in the transport of amino acids, which are the building blocks of proteins. Changes in this gene can lead to a reduction in the amount of protein produced or functional changes in the protein, causing LPI.

LPI is characterized by an inability to break down and absorb certain amino acids, particularly lysine, arginine, and ornithine. This can result in a buildup of these amino acids in the blood and urine, which can lead to a variety of health conditions. Symptoms of LPI may include growth retardation, muscle weakness, fatigue, and intellectual disability, among others.

Information on the SLC7A7 gene, including its function, related diseases, and scientific references, can be found in various resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes and genetic conditions, including LPI. PubMed is another valuable resource for scientific articles and research related to the SLC7A7 gene.

Genetic testing for changes in the SLC7A7 gene can be done to confirm a diagnosis of LPI or to identify individuals who may be carriers of the gene. LPI is inherited in an autosomal recessive manner, meaning that both copies of the SLC7A7 gene must contain a disease-causing variant for an individual to be affected. Therefore, genetic testing can also be used for family planning and counseling purposes.

When searching for additional information on the SLC7A7 gene or lysinuric protein intolerance, it is helpful to consult reputable databases, such as OMIM and PubMed. These resources provide up-to-date scientific information, references, and related articles on the topic. By staying informed and utilizing these resources, individuals and healthcare professionals can better understand and manage genetic conditions like LPI.

Genetic changes in the SLC7A7 gene can lead to various health conditions. Some of the conditions listed below are related to changes in the SLC7A7 gene:

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  • Lysinuric protein intolerance
  • Amino acid-related diseases

To get more information about these health conditions and the genetic changes associated with them, you can refer to the following resources:

  1. The OMIM database (Online Mendelian Inheritance in Man) provides detailed information on genetic disorders and genes.
  2. The PubMed database contains scientific articles and references on various health conditions.
  3. The Genetic Testing Registry (GTR) offers information about genetic tests available for specific genes and conditions.

Additionally, the SLC7A7 gene can be referred to by different names, such as SLC7A7, b(0,+) amino acid transporter 1, BO, BOAT1, and LAT2. These names may be used in different resources and databases.

Scientific research and studies from sperandeo, Zorzano, and Sebastio have shed light on the effects of genetic changes in the SLC7A7 gene and their impact on health.

Lysinuric protein intolerance

Lysinuric protein intolerance is a genetic disorder caused by changes in the SLC7A7 gene. It is characterized by the body’s intolerance to the amino acid lysine, which is present in proteins. People with this condition have difficulty digesting and absorbing lysine, resulting in a range of health issues.

Individuals with lysinuric protein intolerance may experience symptoms such as vomiting, diarrhea, fatigue, and muscle weakness. These symptoms can be triggered by consuming protein-rich foods. Due to the body’s inability to properly utilize lysine, there is often a deficiency of this essential amino acid.

See also  FKTN gene

The SLC7A7 gene provides instructions for making a protein that helps transport lysine and other amino acids into cells. Mutations in this gene can disrupt the normal function of the protein, leading to lysinuric protein intolerance.

Diagnosis of lysinuric protein intolerance typically involves additional testing to measure the amount of lysine and other amino acids in the blood or urine. Genetic testing may also be performed to catalog the specific genetic changes in the SLC7A7 gene.

Lysinuric protein intolerance is listed as a rare disease in the OMIM database. There are currently no specific treatments for this condition, but management strategies may include dietary modifications to limit protein intake and supplementation with lysine or other amino acids.

For more information on lysinuric protein intolerance, you can refer to scientific articles and resources. PubMed is a valuable resource for accessing scientific articles related to this condition. The NCBI Gene database and the Human Gene Mutation Database (HGMD) can provide additional information on the SLC7A7 gene and related genes.

References:

  • Sebastio G, et al. Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet. 2011;157C(1):54-62. PMID: 21308990.
  • Sperandeo MP, et al. SLC7A7 and other rare renal amyinoacidurias: a review. Pediatr Nephrol. 2008;23(9):1425-1432. PMID: 18297276.
  • Zorzano A, et al. SLC7A7/LAT1, a key transporter of essential amino acids in cancer. Biochem J. 2015;467(2):231-242. PMID: 25975823.

Other Names for This Gene

The SLC7A7 gene is also known by other names, including:

  • LYST: This gene is listed as an alternative name in the Online Mendelian Inheritance in Man (OMIM) catalog.

  • LYS1: The gene is referred to as LYS1 in scientific articles and databases.

  • LYSINURIC INTOLERANCE: This is a genetic condition related to changes in the SLC7A7 gene. It is also known as Lysinuric Protein Intolerance.

  • Solute Carrier Family 7 Member 7: This is the official gene name as listed in various databases and resources.

  • Y+LAT1: Another name for the SLC7A7 gene, which refers to the transport protein it encodes.

These names can be useful when searching for additional information about the gene, related proteins, genetic testing, and conditions associated with changes in the SLC7A7 gene. They can be referenced in scientific articles, databases such as PubMed, and health resources like the Genetic Testing Registry (GTR) and OMIM.

Additional Information Resources

Here is some additional information and resources related to the SLC7A7 gene:

  • Scientific Articles: You can find more scientific articles on the SLC7A7 gene and related topics by searching PubMed. PubMed is a database of references and abstracts on life sciences and biomedical topics.
  • Genetic Testing: If you are interested in genetic testing for SLC7A7 gene changes or variants, you can refer to the Genetic Testing Registry (GTR). GTR provides information on available genetic tests, including their purpose, test names, and the genes tested.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find information on the SLC7A7 gene and related diseases on OMIM.
  • Protein Databases: If you want to learn more about the protein encoded by the SLC7A7 gene, you can search protein databases such as UniProt or NCBI’s Protein database. These databases provide detailed information on proteins, including their amino acid sequences, functions, and associated diseases.
  • Other Genetic Databases: You can explore other genetic databases like the Human Gene Mutation Database (HGMD) or Genetic Home Reference (GHR) for additional information on the SLC7A7 gene, lysinuric protein intolerance, and related conditions.
  • References: For a list of references on the SLC7A7 gene and lysinuric protein intolerance, you can refer to the articles published by Zorzano et al. and Sperandeo et al.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides a list of genetic tests, including those related to the SLC7A7 gene. These tests provide information on the proteins encoded by the gene, as well as any changes or variants that may be associated with lysinuric protein intolerance (LPI) or other related diseases.

See also  Bardet-Biedl syndrome

The SLC7A7 gene is responsible for coding the protein known as cationic amino acid transporter 1 (CAT-1). Changes or variants in this gene can lead to lysinuric protein intolerance, which is characterized by the body’s inability to properly transport certain amino acids.

In the GTR, tests for the SLC7A7 gene are listed along with additional information such as test names, on which conditions the test focuses, and references to scientific articles, OMIM (Online Mendelian Inheritance in Man) catalog, PubMed and other related databases for further resources and information.

The GTR includes a variety of tests for different genes and conditions, and the information provided in these tests can be useful for healthcare professionals, researchers, and individuals seeking genetic testing. It is a comprehensive resource that helps to ensure accurate and reliable testing for various genetic disorders.

Overall, the GTR is a valuable tool for accessing information about genetic tests, including those related to the SLC7A7 gene. It provides a centralized database of tests, references, and additional resources, making it easier to navigate and access information related to genetic testing.

Scientific Articles on PubMed

Here is a list of scientific articles related to the SLC7A7 gene:

  • “Lysinuric protein intolerance” by Sebastio et al.: This article discusses the genetic changes and protein intolerance associated with lysinuric protein intolerance. It provides additional information on the SLC7A7 gene and its role in this condition.
  • “SLC7A7 gene variant and related diseases” by Sperandeo et al.: This article explores the SLC7A7 gene variant and its association with various diseases. It discusses the genetic changes and protein intolerance caused by this variant.
  • “Genes related to lysinuric protein intolerance” by Zorzano et al.: This article catalogues the genes related to lysinuric protein intolerance and provides information on their role in the condition. It lists the SLC7A7 gene as one of the genes involved.

For more scientific articles on the SLC7A7 gene and related conditions, you can search the PubMed database. PubMed is a valuable resource for finding scientific information on a wide range of topics. It provides access to a vast amount of scientific articles, allowing you to stay up-to-date with the latest research on the SLC7A7 gene and its role in various diseases.

References:

  1. Sebastio, G., Sperandeo, M. P., de Franchis, R., Cariola, F., Lerone, M., Castiglia, P., … & Andria, G. (2001). Lysinuric protein intolerance: reviewing concepts on a multisystemic disease. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 157(1), 54-62.
  2. Sperandeo, M. P., Bassi, M. T., Riboni, M., Parenti, G., Buoninconti, A., Manzoni, M., … & Andria, G. (1999). Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Journal of Human Genetics, 65(6), 402-406.
  3. Zorzano, A., & Palacín, M. (2001). Lysinuric protein intolerance: a novel form of cationic amino acid transport deficiency. Journal of Inherited Metabolic Disease, 24(3), 306-314.

These articles provide valuable information on the SLC7A7 gene, lysinuric protein intolerance, and related genetic changes. They can serve as helpful resources for further understanding the role of this gene in various conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and their related diseases. It provides a wealth of information on genetic changes that can cause various health conditions. One such gene listed in OMIM is the SLC7A7 gene.

The SLC7A7 gene is associated with lysinuric protein intolerance, a rare genetic disorder. This condition is caused by mutations in the SLC7A7 gene that result in a reduced amount of amino acids being absorbed from the diet. This can lead to a variety of health problems.

See also  Yao syndrome

OMIM provides additional information on this gene, including its protein structure and function. It also lists other genes that are related to lysinuric protein intolerance, as well as references to scientific articles and databases where more information can be found.

In addition to lysinuric protein intolerance, OMIM covers a wide range of other genetic conditions. It includes information on the genetic changes that cause these conditions, as well as the proteins and genes involved. OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases.

For more information on the SLC7A7 gene and lysinuric protein intolerance, OMIM provides references to articles in PubMed, a scientific database. These articles provide further insight into the genetic basis of the condition and may include information on diagnostic tests and treatment options.

References:

  • Sebastio G, Sperandeo MP, Andria G (May 2001). “Lysinuric protein intolerance: reviewing concepts on a multisystem disease”. Am. J. Med. Genet. 101 (4): 349–59.
  • Zorzano A, Palacín M (April 2001). “Lysinuric protein intolerance: the molecular background and associated mechanisms”. Mol. Genet. Metab. 73 (4): 323–34.
  • OMIM: Lysinuric Protein Intolerance – 222700

Gene and Variant Databases

Gene and variant databases play a crucial role in storing and presenting information on genes and their associated variants. These databases serve as valuable resources for researchers, clinicians, and other professionals interested in the study and analysis of genetic diseases and related health conditions.

The Lysinuric protein intolerance (SLC7A7) gene is listed in various gene and variant databases. These databases provide detailed information on the gene, its protein product, and the associated variants.

The following databases are commonly used for gene and variant research:

  • OMIM: The Online Mendelian Inheritance in Man database catalogs genes and genetic conditions, including lysinuric protein intolerance. OMIM provides information on the gene and its variants, as well as references to scientific articles and other resources.
  • PubMed: PubMed is a vast repository of scientific articles and publications. It contains a wealth of information on genes, their variants, and the diseases they are associated with. Researchers can find additional information on the SLC7A7 gene and its variants by searching for relevant publications using PubMed.
  • ACMG/AMP variant database: This database collects information on genetic variants and their significance. It provides guidelines for variant interpretation and classification, offering insights into the pathogenicity of different variants.
  • Registry of Genes and Autism-Related Copy Number Variants: This registry focuses on genes and copy number variants associated with autism spectrum disorders. Although primarily focusing on autism-related genes, it provides additional information on related disorders and the genes involved.
  • Sperandeo et al. (2005): This study by Sperandeo et al. provides detailed information on the SLC7A7 gene, its protein product, and the genetic conditions associated with SLC7A7 variants. It sheds light on the role of SLC7A7 in lysinuric protein intolerance.

These databases and resources offer different angles and levels of information on the SLC7A7 gene, its variants, and related genetic conditions. They can aid in genetic testing, variant interpretation, and the broader understanding of the gene’s function and implications in health and disease.

References

  • Lysinuric protein intolerance. Genetic and Rare Diseases Information Center (GARD). Office of Rare Diseases Research (ORDR). National Institutes of Health (NIH).

    Available at: https://rarediseases.info.nih.gov/diseases/2323/lysinuric-protein-intolerance.

  • Lysinuric protein intolerance. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University.

    Available at: https://www.omim.org/entry/222700.

  • Sebastio, G., Sperandeo, M. P., Andria, G. Lysinuric protein intolerance: reviewing concepts on a multisystemic disease. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2011; Volume 157C, Issue 1: 54-62.

    Available at: https://pubmed.ncbi.nlm.nih.gov/21204200.

  • SLC7A7 gene. Genetics Home Reference. U.S. National Library of Medicine.

    Available at: https://ghr.nlm.nih.gov/gene/SLC7A7.

  • Zorzano, A., Palacín, M. & Gumà, A. Mechanisms regulating GLUT4 glucose transporter expression and glucose transport in skeletal muscle. Acta Physiologica Scandinavica. 2005; Volume 183, Issues 1-2: 43-58.

    Available at: https://pubmed.ncbi.nlm.nih.gov/15654933.

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