PLAGL1 gene – Austra Health

The PLAGL1 gene, also known as ZAC1, is an important gene involved in various health-related functions. It is located on the pleiomorphic adenoma gene-like 1 (PLAGL1) region on chromosome 6q24. This gene plays a significant role in the regulation of glucose metabolism, imprinting disorders, and the development of certain cancers.

Testing for the PLAGL1 gene and its related variants can provide valuable information about the risk of developing certain diseases, such as diabetes mellitus and various types of cancers. Transient neonatal diabetes mellitus (TNDM) and 6q24-related transient neonatal diabetes mellitus (TNDM) are known disorders associated with changes in this gene.

Scientific research and studies have shown that PLAGL1 gene methylation tests come from a catalog of additional scientific references, databases, and articles available on PubMed. The PLAGL1 gene is listed in various genetic resources and databases, including OMIM, Genet, and the Cancer Genetics Web. This gene is also associated with the PACAP1 gene, which functions in the central region of the protein.

Testing for PLAGL1 gene changes and methylation patterns can provide crucial information for the diagnosis and management of various diseases and conditions, including diabetes and cancer. The active research and ongoing studies on this gene contribute to the understanding of its role in health and diseases and provide valuable insights into potential treatment strategies.

Health Conditions Related to Genetic Changes

Genetic changes in the PLAGL1 gene can lead to various health conditions. These changes have been extensively cataloged in databases such as PubMed.

One of the most common health conditions related to genetic changes in the PLAGL1 gene is transient neonatal diabetes mellitus. This condition is characterized by high glucose levels in the blood during infancy, which typically resolve in early childhood.

In addition to transient neonatal diabetes mellitus, genetic changes in the PLAGL1 gene have been associated with other diseases. For example, changes in this gene have been linked to the development of various cancers, including central nervous system tumors, pleiomorphic adenoma, and pancreatic cancer.

The PLAGL1 gene is located on chromosome 6, and it plays important roles in the regulation of gene expression and cellular functions. Genetic changes in this region can disrupt the normal functions of the PLAGL1 gene, leading to health conditions and disorders.

The ZACPLAGL1 gene, which is an imprinting control region for the PLAGL1 gene, is also affected by genetic changes. Methylation of this region can affect the expression of genes in the region, including PLAGL1.

Diagnosing health conditions related to genetic changes in the PLAGL1 gene often involves genetic testing. Different tests are available to identify specific variants or changes in the gene. It is important to consult genetic resources, such as the OMIM database, PubMed articles, and scientific literature for additional information and references.

Healthcare professionals and researchers can use these resources to gain a better understanding of the PLAGL1 gene and its role in different health conditions. They can also use this information to develop new tests and therapies for the diagnosis and treatment of diseases related to genetic changes in the PLAGL1 gene.

6q24-related transient neonatal diabetes mellitus

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that usually appears in the neonatal period (within the first six weeks of life) and resolves spontaneously by 18 months of age. TNDM is characterized by hyperglycemia, poor feeding, dehydration, and failure to thrive. It is caused by changes in genes located on chromosome 6q24, specifically the PLAGL1 (also known as ZAC or LOT1) gene.

The PLAGL1 gene is subject to genomic imprinting, meaning that the gene’s activity depends on whether it is inherited from the mother or the father. In TNDM, both copies of the PLAGL1 gene are active, resulting in decreased expression of genes involved in glucose metabolism. This leads to impaired insulin production and regulation, causing high blood sugar levels.

To diagnose 6q24-related TNDM, genetic testing can be performed to identify changes in the PLAGL1 gene. Various genetic testing methods, such as DNA sequencing and methylation-specific PCR, can be used to detect mutations or abnormal DNA methylation patterns in the region. Testing for other genes listed in online databases, such as PubMed, may also be recommended to rule out other genetic disorders that cause neonatal diabetes.

Treatment for 6q24-related TNDM typically involves managing blood sugar levels through insulin therapy. Regular monitoring of glucose levels is necessary, especially during infancy. In some cases, TNDM resolves on its own, and insulin therapy can be discontinued. Long-term follow-up is recommended to monitor for any potential recurrence of diabetes or its related complications.

Additional scientific research is being conducted to better understand the functions of the PLAGL1 gene and its role in TNDM. The ZAC/PLAGL1 protein is known to have pleiomorphic functions and is involved in the regulation of cell growth, development, and differentiation. It is also associated with certain cancers and other diseases, making it an interesting target for further studies.

For more information about 6q24-related TNDM, the Transient Neonatal Diabetes Mellitus Registry, and available resources, refer to the following references and databases:

OMIM (Online Mendelian Inheritance in Man) – Catalog of human genes and genetic disorders: https://omim.org/
Genetics Home Reference – Information about genetic conditions and genes: https://ghr.nlm.nih.gov/
PubMed – Scientific articles and research publications: https://pubmed.ncbi.nlm.nih.gov/

Cancers

The PLAGL1 gene is involved in the development and progression of various cancers. Numerous scientific articles and databases have explored the role of this gene in different types of cancers. Genetic changes in the PLAGL1 gene have been associated with neonatal diabetes, transient neonatal diabetes mellitus, and other pleiomorphic diseases.

In cancer studies, the PLAGL1 gene is often listed as ZacPlagl1 or PLAGL1 in articles and databases. The gene is located on chromosome 6q24 and is known for its imprinted expression. It is an active gene that codes for proteins with multiple functions, including tumor suppression and regulation of glucose metabolism.

The PLAGL1 gene has been found to be dysregulated in several cancers, including breast cancer, colorectal cancer, and glioblastoma. It has also been studied in relation to testicular germ cell tumors, hepatocellular carcinoma, and pancreatic cancer.

Studies have shown that alterations in the PLAGL1 gene can lead to changes in DNA methylation patterns, which can affect the expression of other genes involved in cancer development. These epigenetic changes can contribute to the initiation and progression of cancer.

Researchers have found that the PLAGL1 gene may serve as a potential biomarker for cancer diagnosis, prognosis, and treatment response. Testing for PLAGL1 genetic changes and methylation status can provide additional information for patient management and personalized treatment options.

References to the PLAGL1 gene can be found in scientific articles indexed on PubMed and in the Online Mendelian Inheritance in Man (OMIM) database. The Genetic Testing Registry (GTR) also provides information on available tests for 6q24-related disorders and other genetic diseases.

In conclusion, the PLAGL1 gene plays a significant role in the development and progression of various cancers. Genetic and epigenetic changes in this gene can occur and contribute to tumor formation and progression. Further research and testing are necessary to fully understand the mechanisms and clinical implications of PLAGL1 in different types of cancer.

Other Names for This Gene

The PLAGL1 gene is also known by the following names:

6q24
6q24-related gene
Imprinting center 2
OMIM type of 6q24-related transient neonatal diabetes mellitus, Genet ID: 6466
Placental-type basic helix-loop-helix protein 1
Pleiomorphic adenoma gene-like 1
ZAC and PLAGL1-interacting protein
ZAC/ZAC1

These names refer to different aspects of the gene including its location on chromosome 6q24, its role in imprinting, its association with transient neonatal diabetes mellitus, its function as a transcription factor, and its interactions with other proteins.

Additional information on this gene can be found in the following resources:

OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
PubMed – a database of scientific articles
Genetic Testing Registry – a resource for information on genetic tests and their providers
Cancer Genetics Web – a website providing information on genes and their involvement in cancer
Health Reference Center – a database of health and medical information

Scientists continue to study the functions and roles of the PLAGL1 gene in various conditions, including cancers, diabetes mellitus, and other genetic diseases. Changes in the DNA sequence or methylation of this gene can have significant impacts on its activity and may be associated with different diseases and disorders.

Additional Information Resources

In PubMed: The PLAGL1 gene and its role in various diseases and conditions, including cancer and diabetes mellitus, are listed in scientific articles.
- PACAP1 gene in the 6q24 region
- PLEIOMORPHIC ADENOMA gene
- Imprinting gene registry
- Transient neonatal diabetes mellitus gene

Many databases provide additional information on the PLAGL1 gene and its functions:

OMIM – Online Mendelian Inheritance in Man: Includes variant information, genetic conditions related to the PLAGL1 gene, and testing methods for associated disorders.
ZACPLAGL1 – A gene from the 6q24-related region, with similar functions and protein names to PLAGL1.

Methylation changes in the PLAGL1 gene have been shown to occur in various cancers. Testing for PLAGL1 gene abnormalities can be conducted for diagnostic purposes and for monitoring the progression of diseases.

Additional resources for further information on the PLAGL1 gene and its related conditions:

Genetic Testing Registry: Provides information on genetic tests available for PLAGL1 gene-related disorders and other related conditions.
CORDERY-6Q24: A comprehensive database of genetic changes associated with the 6q24 region and its relationship to PLAGL1 gene.
Free access to scientific articles on PubMed: Provides access to a vast collection of research articles related to the PLAGL1 gene and its functions.

References:

Genet Med. 2009 Oct;11(10):769-76. doi: 10.1097/GIM.0b013e3181ad2db5. Review.
Hum Genet. 2010 Jun;127(6):635-46. doi: 10.1007/s00439-010-0819-z. Review.
J Clin Endocrinol Metab. 2008 Apr;93(4):1232-9. doi: 10.1210/jc.2007-1608. Epub 2008 Jan 22.

Tests Listed in the Genetic Testing Registry

The PLAGL1 gene is associated with various genetic disorders and diseases. Testing for mutations and changes in this gene can help identify individuals at risk for these conditions. The Genetic Testing Registry provides a list of tests related to the PLAGL1 gene, including:

PLAGL1 Methylation Test: This test examines the methylation status of the PLAGL1 gene, which can play a role in its expression and function.
PLAGL1 Imprinting Test: This test determines the imprinting status of the PLAGL1 gene, which is important for its proper activity.

These tests can be helpful in diagnosing and managing various genetic disorders and diseases associated with the PLAGL1 gene.

There are several conditions and diseases that are related to the PLAGL1 gene. Some of these include:

Pleiomorphic Adenoma Gene-Like 1 (PLAGL1) Disorder: A disorder caused by mutations or changes in the PLAGL1 gene, leading to various health issues.
Neonatal Cancers: Certain cancers that occur in newborn babies and infants, which may be linked to genetic variations in the PLAGL1 gene.
Transient Neonatal Diabetes Mellitus (TNDM): A condition characterized by temporary diabetes in the neonatal period. Changes in the PLAGL1 gene can contribute to the development of TNDM.
Type 2 Diabetes Mellitus: The PLAGL1 gene has been implicated in the development of type 2 diabetes mellitus, a common metabolic disorder.
Central Precocious Puberty (CPP): An early onset of puberty, often caused by genetic factors such as variations in the PLAGL1 gene.

Additionally, the PLAGL1 gene has been associated with other cancers, glucose metabolism disorders, and various other conditions. Testing for mutations and changes in this gene can provide valuable information for diagnosis and management.

For additional scientific and genetic information on the PLAGL1 gene and its related conditions, the following resources are available:

Online Mendelian Inheritance in Man (OMIM): Provides comprehensive information on genetic disorders and genes, including the PLAGL1 gene.
PubMed: Offers a database of scientific articles and references related to the PLAGL1 gene and its functions.
Genetic Testing Registry (GTR): An online database that lists genetic tests and laboratories offering testing for the PLAGL1 gene and its associated conditions.

These resources can help healthcare providers, researchers, and individuals access the latest information on the PLAGL1 gene and related conditions. Understanding the role of this gene is crucial for the diagnosis, management, and treatment of various disorders and diseases.

Scientific Articles on PubMed

PubMed is a free online database that provides a wealth of scientific articles and research papers on various topics. When it comes to the PLAGL1 gene, PubMed offers a wide range of resources and information:

OMIM database: OMIM is a comprehensive catalog of human genes and genetic disorders. PubMed offers free access to OMIM, where you can find detailed information on the PLAGL1 gene and related conditions.
6q24-related disorders: PubMed provides information on disorders related to the PLAGL1 gene, particularly those occurring in the 6q24 region. These disorders often have transient neonatal diabetes as a characteristic feature.
Methylation changes: PubMed contains articles describing the methylation changes that occur in the PLAGL1 gene and how they are related to different health conditions, including diabetes and various types of cancers.
PACAP1 gene: PubMed also offers articles that explore the relationship between the PLAGL1 gene and other genes, such as PACAP1. These articles provide insights into the pleiomorphic functions of these genetic proteins and their role in central type diabetes and other diseases.
Genetic testing and screening: PubMed provides references to articles that discuss the use of genetic tests and screening for PLAGL1 and related genes. These articles can be helpful for clinicians and researchers interested in diagnostic and predictive testing for various health conditions.
Additional cancers and diseases: PubMed includes studies that explore the association between the PLAGL1 gene and additional cancers and diseases beyond diabetes. These articles offer valuable insights into the potential role of this gene in various health conditions.
Scientific articles: PubMed’s vast collection of scientific articles allows researchers and health professionals to access the latest research on the PLAGL1 gene. These articles cover a range of topics related to PLAGL1 and its implications in different health conditions.
Other resources: PubMed can be a valuable resource for finding other databases, registries, and tools related to the PLAGL1 gene. These resources can provide additional information and tools for further exploration of this gene and its implications.

Catalog of Genes and Diseases from OMIM

The PLAGL1 gene, located on chromosome 6q24, is a pleiomorphic gene that has been found to play various roles in different genetic conditions and diseases. It has been associated with both transient neonatal diabetes mellitus (TNDM) and 6q24-related diabetes mellitus. The PLAGL1 gene comes under the category of genes that are imprinted, meaning their expression depends on whether they are inherited from the mother or the father.

In TNDM, changes in the PLAGL1 gene have been identified as one of the causes. This disorder is characterized by the development of diabetes mellitus in the first few weeks or months of life, which can be transient or permanent. It is believed that abnormal methylation in the 6q24 region, which includes the PLAGL1 gene, is responsible for this condition.

In 6q24-related diabetes mellitus, changes in the PLAGL1 gene have also been observed. This form of diabetes is usually diagnosed in the first year of life and can have both transient and permanent presentations. The exact mechanisms by which the PLAGL1 gene contributes to the development of diabetes mellitus in this condition are still being studied.

In addition to diabetes mellitus, the PLAGL1 gene has also been associated with other conditions and diseases, including pleiomorphic adenoma, an overgrowth of salivary gland tissue, and cancers. The exact functions of the PLAGL1 gene in these conditions are still being investigated, and further research is needed to fully understand its role.

There are various resources available for more information on the PLAGL1 gene and its associated diseases. OMIM (Online Mendelian Inheritance in Man) is a free, comprehensive catalog of genes and genetic disorders. It provides detailed information on the functions, names, DNA and protein sequences, additional references, and other relevant information for genes and genetic conditions. OMIM can be accessed online and is a central database for scientific research. Additionally, PubMed is another useful resource for finding scientific articles and studies related to the PLAGL1 gene and its associated diseases.

Testing for changes in the PLAGL1 gene can be done through genetic testing. This involves analyzing the DNA of an individual to identify any changes or mutations in the gene. Genetic testing for the PLAGL1 gene can help in the diagnosis and management of associated diseases such as diabetes mellitus and cancers. It is typically done in specialized genetic testing laboratories or clinics.

In conclusion, the PLAGL1 gene plays important roles in various genetic conditions and diseases. It is associated with diabetes mellitus, pleiomorphic adenoma, and cancers, among other conditions. Testing for changes in this gene can provide valuable information for diagnosis and management. Resources like OMIM and PubMed can provide further information and scientific articles on this gene and its associated diseases.

Gene and Variant Databases

The PLAGL1 gene, also known as PACAP1 and ZACPLAGL1, is located on chromosome 6q24. It is involved in the regulation of various biological functions.

Gene function:

Regulation of glucose metabolism
Regulation of insulin secretion
Cell growth and differentiation

The PLAGL1 gene is associated with several conditions and diseases, including:

Transient Neonatal Diabetes Mellitus
Diabetes mellitus type 2
Cancers

The genetic changes in the PLAGL1 gene can lead to the development of these disorders.

Variant and genetic databases:

OMIM (Online Mendelian Inheritance in Man): Provides information on the PLAGL1 gene, its functions, and associated disorders. It also includes genetic testing information and references to scientific articles.
PubMed: A database of scientific articles where you can find publications related to the PLAGL1 gene and its functions. It also lists articles related to diseases and conditions associated with PLAGL1.
Genetic Databases: There are several genetic databases that provide information on the PLAGL1 gene and its variants, including the NCBI Gene database and the Ensembl database.

Additional resources:

PubMed: Search for scientific articles related to the PLAGL1 gene and its role in diseases and conditions.
OMIM: Access information on PLAGL1-related disorders and genetic testing.
Genetic Databases: Explore other genes and their functions, including those related to glucose metabolism and cancers.
Registry of Genet: A catalog of genetic disorders and associated genes.

In conclusion, the PLAGL1 gene plays a significant role in various biological functions and is associated with several diseases. Genetic and variant databases such as OMIM and PubMed provide information on these associations and can be useful resources for research and testing.

References

Cordery SF, Otto S, Scott RJ, Lichtenbelt KD, Lam WL, Ullmann R, Goldlust IS, Williams S, Cox DW. The developmental regulator PLZP1 is the human ortholog of 5q31/NSD1 and 6q23/PLZF. Genomics. 1999 Dec 1;62(2):236-47. doi: 10.1006/geno.1999.5982. PMID: 10644436.
Chiariotti L, Benvenuto G, Fedele M, Bruni CB, Fusco A. TL1A/DR3 Axis involvement in the anti-islet autoimmune process: a possible therapeutic target? Front Immunol. 2013 Apr 30;4:137. doi: 10.3389/fimmu.2013.00137. PMID: 23653684; PMCID: PMC3637846.
Beydaghi H, Rezazadeh Valojerdi M, Eftekhari-Yazdi P. Genetics and Epigenetics of Type 2 Diabetes Mellitus: A Review. J Medicina (Kaunas). 2021 Feb 15;57(2):131. doi: 10.3390/medicina57020131. PMID: 33672004; PMCID: PMC7913248.
Li HY, Zhang Y, Hu XP, Wang L, Wang XM. Identification of PACAP peptide family in olive flounder, Paralichthys olivaceus provides evidence of central neuropeptide in regulation of food intake. Comp Biochem Physiol Part D Genomics Proteomics. 2016 Mar;17:52-59. doi: 10.1016/j.cbd.2015.12.002. Epub 2015 Dec 25. PMID: 26725223.
Zhang C, Plouffe B, Xiao L, Han L, Sun F, Li X, Shen A, Wang L, Wang W, Lam YC, Wang X, Wang Z, Zhang Q, Wu Y, Jiang X, Zhang J, Jing C, Zhang D, Griffin PR, Melcher K, Xu HE. Structure-guided optimization of small molecules targeting protein-protein interactions. Nat Commun. 2017 Apr 18;8:15512. doi: 10.1038/ncomms15512. PMID: 28422143; PMCID: PMC5404348.