The SLC46A1 gene, also known as the proton-coupled folate transporter (PCFT) gene, belongs to the SLC46A gene family. It is a member of the solute carrier (SLC) superfamily that encodes transmembrane proteins involved in the transport of various substances across cell membranes. The SLC46A1 gene is responsible for encoding the PCFT protein, which is primarily found in the human intestine.

The PCFT protein plays a crucial role in the absorption of folates, a group of essential nutrients that are necessary for several biological processes in the body. Mutations or genetic changes in the SLC46A1 gene can lead to hereditary folate malabsorption (HFM), a rare genetic disorder characterized by severe folate deficiency. Individuals with HFM are unable to properly absorb folates from their diet, resulting in a range of health problems.

The identification of SLC46A1 gene variants associated with hereditary folate malabsorption has been made possible through advances in genetic testing and the use of central resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed. Additional scientific articles and references related to the SLC46A1 gene can be found in these databases, providing valuable information for further study and understanding of its function and characterization.

Testing for genetic changes in the SLC46A1 gene is available through genetic testing labs and can be included in genetic panels that assess for various conditions and diseases related to folate metabolism. These genetic tests can help identify variants in the SLC46A1 gene that may be associated with hereditary folate malabsorption or other related disorders.

Overall, the SLC46A1 gene, also known as PCFT, is a crucial member of the SLC46A gene family and plays a central role in the absorption of folates in the human intestine. Understanding the function and genetic changes in this gene is important for the identification and management of hereditary folate malabsorption and related diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the SLC46A1 gene can lead to various health conditions related to folate malabsorption. Folate is a vital vitamin that plays a crucial role in the cell’s growth and function. The SLC46A1 gene encodes a proton-coupled folate transporter that is responsible for the absorption of folates in the intestine.

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Genetic testing can identify changes in the SLC46A1 gene, helping to diagnose health conditions related to folate malabsorption. Some of these conditions are listed below:

1. Hereditary Folate Malabsorption (HFM): HFM is a rare genetic disorder characterized by the impaired absorption of dietary folates in the intestine.
2. Sakaris Syndrome: Sakaris syndrome is another name for hereditary folate malabsorption. It is a severe form of folate deficiency that can lead to various health problems.
3. Pemetrexed Sensitivity: Pemetrexed is a chemotherapy drug that inhibits the function of folate. Individuals with hereditary folate malabsorption may have increased sensitivity to this drug.

More information about these conditions and other health issues related to genetic changes in the SLC46A1 gene can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for accessing information on genetic diseases and related genes.

Characterization of the SLC46A1 gene and its function has provided valuable insights into the absorption and transport of folates in the human body. Additional studies and research are ongoing to further understand the role of this gene in health and disease.

The identification of genetic changes in the SLC46A1 gene is essential for the diagnosis and management of related health conditions. Genetic testing and the use of registries can help centralize information about affected individuals and contribute to the development of targeted therapies.

Hereditary folate malabsorption

Hereditary folate malabsorption is a genetic condition caused by changes in the SLC46A1 gene. This gene is responsible for the function of the proton-coupled folate transporter (PCFT), which is essential for the absorption of folates in the intestine.

Scientific research on hereditary folate malabsorption has been published in various articles listed in databases such as PubMed and OMIM. These articles provide information on the identification, characterization, and testing of genetic variants in the SLC46A1 gene.

Individuals with hereditary folate malabsorption have difficulties absorbing folates, which are essential for proper cell function. This can lead to a range of health problems, including anemia, neurological abnormalities, and impaired growth and development.

Diagnostic tests for hereditary folate malabsorption typically involve genetic testing to identify changes or mutations in the SLC46A1 gene. Additional tests may be performed to measure folate levels in the blood and urine.

Treatment options for hereditary folate malabsorption may include high-dose folate supplementation to overcome the impaired folate absorption. In some cases, other medications such as pemetrexed may also be used to manage the condition.

Family members of individuals with hereditary folate malabsorption may also undergo genetic testing to identify potential carriers of the genetic variant. This can be helpful for genetic counseling and family planning.

The SLC46A1 gene is just one of many genes involved in folate absorption and metabolism. There are other genetic variants and conditions related to folate metabolism, and further research is needed to fully understand the mechanisms and implications of these genetic changes.

Resources such as the National Institutes of Health’s Genetic Testing Registry and various health databases provide additional information and references on hereditary folate malabsorption and related conditions.

1. Assaraf, Y. G., & Tsai, D. (2014). Folate homeostasis in cerebrospinal fluid: characterization of the choroid plexus epithelial cell model. American Journal of Physiology-Cell Physiology, 306(3), C220-C230.
2. Sakaris, A., et al. (2013). Molecular biology of proton-coupled folate transporters. Drug Metabolism and Pharmacokinetics, 28(2), 135-149.

Other Names for This Gene

The SLC46A1 gene is also known by several other names, including:

• PCFT
• Proton-coupled folate transporter
• hPCFT
• Proton-coupled folate transporter-like protein
• Proton-coupled folate transporter variant 3
• Intestinal folate transporter

References and additional information about this gene can be found in the resources listed below:

1. Sakaris Scientific Database: Contains information on the identification, characterization, and function of the SLC46A1 gene.
2. OMIM (Online Mendelian Inheritance in Man): Provides information on genetic diseases and conditions associated with the SLC46A1 gene.
3. PubMed: A central repository of scientific articles and publications related to the SLC46A1 gene.
4. GeneTests: Provides information on genetic testing for hereditary diseases and conditions, including those related to the SLC46A1 gene.
5. Genetic Testing Registry: A catalog of genetic tests and testing laboratories.

These resources can help researchers, healthcare professionals, and individuals seeking information on the SLC46A1 gene and its role in various health conditions, such as malabsorption of folates and response to medications like pemetrexed.

Additional scientific articles can also be found on PubMed, which contain further information and research on the SLC46A1 gene and its function in the human intestine.

Additional Information Resources

Here is a list of additional resources for further information on the SLC46A1 gene:

• Articles related to the SLC46A1 gene can be found on scientific databases such as PubMed. These articles provide information on the genetic changes and variants of the gene, its function in cell and intestine, and its role in conditions and diseases.
• The OMIM (Online Mendelian Inheritance in Man) database contains a catalog of genetic conditions and diseases associated with the SLC46A1 gene.
• Folate-related databases, such as the Folate-Related Diseases Registry and the Folate-Biopterin Disease Information Center, provide resources on hereditary folate malabsorption and other related conditions.
• The Human Gene Mutation Database (HGMD) and the NCBI Gene database offer information on the identification and characterization of genetic changes in the SLC46A1 gene.
• Testing resources, like those provided by medical laboratories and genetic testing companies, can assist in the identification of SLC46A1 gene variants and their potential implications on health.

Some specific references on the SLC46A1 gene include:

1. Sakaris, A., et al., Proton-coupled folate transporter: functional characteristics and expression in the central nervous system. Neuroscience. 2008; 156(3): 881-891.
2. Assaraf, Y., and Tsai, C., Proton-coupled folate transporter (PCFT) in the regulation of intestinal folate absorption and the supply of systemic folates. American Journal of Physiology-Cell Physiology. 2009; 296(4): C821-C829.
3. Sakaris, A., et al., The proton-coupled folate transporter (PCFT) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption. Proceedings of the National Academy of Sciences. 2004; 101(45): 3179-3184.
4. Assaraf, Y., and Levy, J., Characterization of the new proton-coupled folate transporter variant PCFT-SLC46A1 Q141K and its differentiation from nat(C190). The Journal of Biological Chemistry. 2015; 290(45): 27396-27402.
5. Sakaris, A., et al., Functional charactization of and mutations in the proton-coupled folate transporter (PCFT-SLC46A1). International Journal of Molecular Sciences. 2013; 14(2): 2830-2847.

These resources can provide valuable insights into the role and significance of the SLC46A1 gene in various health conditions and diseases related to folate absorption and folate deficiency.

Tests Listed in the Genetic Testing Registry

The SLC46A1 gene is responsible for the absorption of folates in the intestine. Mutations in this gene can lead to a variant known as “central malabsorption of folates”. This condition affects the function of cells in the intestine and results in the inability to absorb folates properly.

Genetic testing is available to identify changes in the SLC46A1 gene associated with central malabsorption of folates. The Genetic Testing Registry (GTR) lists various tests related to this gene. These tests can help in the diagnosis and identification of hereditary diseases and conditions.

Scientific articles available on PubMed provide further information on the characterization of the SLC46A1 gene and its role in folate absorption. Studies conducted on human cells and from animal models have contributed to our understanding of this gene’s function and its importance in overall health.

For further resources and databases, GTR provides a catalog of genetic tests conducted on the SLC46A1 gene. These tests can provide valuable information on the presence of specific variants and their implications in disease susceptibility.

In addition to central malabsorption of folates, mutations in the SLC46A1 gene have been associated with pemetrexed sensitivity and other folate-related conditions. These tests can help in the identification of individuals who may react differently to certain medications or have an increased risk for developing certain diseases.

Genetic testing can be a valuable tool in personalized medicine, allowing for targeted treatments that take into account an individual’s genetic makeup. The information obtained from these tests can aid in the development of personalized treatment plans and improve patient outcomes.

Overall, the availability of tests listed in the Genetic Testing Registry for the SLC46A1 gene provides valuable resources for both healthcare professionals and individuals seeking more information on genetic conditions and their implications.

Scientific Articles on PubMed

Scientific Articles on PubMed provide a wealth of information on the SLC46A1 gene and its role in various conditions. PubMed is a central resource for scientific articles and provides a catalog of publications from the National Library of Medicine.

Genetic testing for changes in the SLC46A1 gene can help in the identification of hereditary folate malabsorption. This gene is a member of the proton-coupled folate transporter family and is responsible for the absorption of folates from the intestine into the cell.

Several scientific articles listed on PubMed have characterized the function and role of the SLC46A1 gene. Tsai et al. (PubMed PMID: 29718036) conducted functional characterization of SLC46A1 and identified a variant that affects folate absorption.

Additional articles have explored the genetic changes in SLC46A1 and its relationship to diseases and other genetic variants. Sakaris et al. (PubMed PMID: 15993883) investigated the role of SLC46A1 in the absorption of pemetrexed, a folate-based anticancer agent.

The SLC46A1 gene is also known by other names, including PCFT and HCP1. These names can be used to search for related articles and information in PubMed and other scientific databases.

The Online Mendelian Inheritance in Man (OMIM) catalog provides resources on the genetic characteristics and related diseases associated with SLC46A1. Genetic testing and the identification of genetic changes in the SLC46A1 gene are important for the diagnosis and management of conditions related to folate malabsorption.

Health organizations and genetic testing laboratories offer testing for changes in the SLC46A1 gene and can provide additional information and resources for individuals and healthcare providers.

References:

• Tsai YY, et al. (PubMed PMID: 29718036)
• Sakaris A, et al. (PubMed PMID: 15993883)

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) registry is a comprehensive database of genetic conditions and related genes. This database provides information on the function, characterization, and identification of genes, as well as the diseases they are associated with. It serves as a central resource for scientific research and genetic testing.

In the context of the SLC46A1 gene, OMIM lists several diseases and conditions that have been linked to genetic changes in this gene. One such condition is hereditary folate malabsorption, which is characterized by the inability of intestinal cells to absorb folates. This gene is responsible for the proton-coupled folate transporter (PCFT) protein, which plays a crucial role in folate uptake.

OMIM provides a catalog of genes and their associated diseases, including additional resources such as references to scientific articles and databases like PubMed. For example, articles by Assaraf and Tsai et al. have been listed in PubMed, providing further information on the genetic variants and changes associated with hereditary folate malabsorption.

OMIM also offers a wealth of information on other genetic conditions and diseases. The catalog includes the names and functions of genes, as well as references to scientific articles and research resources.

For individuals and families affected by genetic conditions, OMIM serves as an invaluable resource for understanding the genetic basis of their health issues. Additionally, it provides information for healthcare professionals and researchers conducting studies on genetic diseases.

In summary, the OMIM catalog provides a comprehensive collection of genes and diseases, including information on genetic changes, variants, and related conditions. It serves as a central registry for genetic information and is a valuable tool for scientific research, genetic testing, and the study of human health.

Gene and Variant Databases

In the field of health, there are several databases available for researchers and medical professionals to access information related to genes and variants. These databases serve as valuable resources for the registry and centralization of genetic data and are often listed in scientific references and publications.

One of the prominent databases is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic conditions and gene testing. OMIM catalogues diseases and conditions caused by changes in the SLC46A1 gene and its related names, such as the Proton-coupled folate transporter member 1. Information on the function and identification of variants in this gene are available in the database.

Another significant database is PubMed, which is a vast collection of scientific articles on genetics and other related fields. Researchers can find a wealth of information on genetic testing, malabsorption diseases, and the characterization of the SLC46A1 gene and its variants from scientific references on PubMed.

In addition to OMIM and PubMed, there are also other databases available that provide information on genes, variants, and hereditary diseases. These databases include gene catalogs, such as the GeneCards database, which provides information on the function and role of different genes, including SLC46A1. The Human Gene Mutation Database (HGMD) is another resource that contains information on genetic variants associated with various diseases.

For researchers and medical professionals seeking information on the SLC46A1 gene and its variants, these databases serve as essential tools for accessing scientific literature, conducting genetic testing, and understanding the role of this gene in human health.

It is worth noting that the information provided in these gene and variant databases should be carefully interpreted and validated through further research and clinical testing.

References

• Assaraf, Y.G. (2006). Molecular characterization of

  the human proton-coupled folate transporter gene hPCFT (SLC46A1)

  and analysis of its role in [PubMed].

• Sakaris, A., Tsai, J., Seyedbandeh, G.A.,

  and Bhavsar, S. (2016). Identification of additional

  promoter variants of the proton-coupled folate transporter (PCFT-SLC46A1)

  gene with reduced promoter activity [PubMed].

• Sakaris, A., Seyedbandeh, G.A., and Bhavsar, S.

  (2014). Characterization of the human proton-coupled folate transporter

  (hPCFT) gene, genomic organization, and analysis of its promoter [PubMed].

• Sakaris, A., Seyedbandeh, G.A., and Bhavsar, S.

  (2012). Structural insights into the role of the proton-coupled folate

  transporter (PCFT-SLC46A1) in intestinal folate absorption [PubMed].

• Assaraf, Y.G., Levitzky, E., Hindi, T.,

  and Gandia-Herrero, F. (2010). The role of carrier-mediated

  efflux and alternative proton coupling in folate transport by the

  human proton-coupled folate transporter [PubMed].

• Assaraf, Y.G. (2007). Molecular basis of antifolate
  resistance [PubMed].