The ZFP57 gene, also known as zinc finger protein 57, is a gene that plays a crucial role in genomic imprinting. Imprinting is a process by which certain genes are “marked” as either maternal or paternal and their expression is regulated accordingly. ZFP57 acts as a transcription factor and is involved in maintaining the DNA methylation patterns in the imprinted regions of the genome.
Normally, ZFP57 is highly expressed during the development of the embryo and early stages of fetal development. After birth, its expression levels decrease but remain present in certain tissues. It is predominantly expressed in the brain, heart, and liver.
The ZFP57 gene is located on the long arm of chromosome 6, specifically in the region known as 6q24. It is listed in various genetic databases and resources, such as OMIM, PubMed, and Genetests. These resources provide additional information on the gene, its variants, and related diseases and conditions.
Studies have shown that changes in the ZFP57 gene are associated with various genetic diseases and conditions. For example, variants in the gene have been linked to transient neonatal diabetes mellitus, a rare form of diabetes that occurs in the first few months of life. Additional research is being conducted to further understand the role of ZFP57 in health and disease.
In conclusion, the ZFP57 gene is a crucial player in the process of genomic imprinting. It regulates DNA methylation patterns in imprinted regions of the genome and is associated with various diseases and conditions. Further research is needed to fully understand the mechanisms and implications of ZFP57 in human health.
Health Conditions Related to Genetic Changes
Several health conditions have been identified to be related to genetic changes in the zinc finger protein 57 (ZFP57) gene. ZFP57 belongs to a family of genes involved in genomic imprinting, which refers to the process of marking genes from each parent to be turned on or off normally. Changes in the ZFP57 gene can disrupt this process and lead to various health conditions.
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One of the health conditions related to genetic changes in the ZFP57 gene is a variant of transient neonatal diabetes mellitus, known as 6q24-related transient neonatal diabetes mellitus. This condition is characterized by abnormal glucose levels in the first weeks or months of life. Genetic testing can be done to identify changes in the ZFP57 gene in individuals with this condition.
Other conditions related to genetic changes in the ZFP57 gene include genetic changes in the region 6q24, which can affect the methylation patterns of imprinted genes. These changes can lead to disorders such as Silver-Russell syndrome and Temple syndrome, which are characterized by growth delay, intellectual disability, and distinctive facial features.
References to scientific articles and resources related to health conditions associated with genetic changes in the ZFP57 gene can be found in databases such as PubMed, OMIM, and other genetic testing registries. These resources provide additional information on the genetic changes, functions of the ZFP57 gene, and health conditions associated with these changes.
6q24-related transient neonatal diabetes mellitus
6q24-related transient neonatal diabetes mellitus is a type of diabetes mellitus that is caused by changes in the 6q24 region of the genome. The 6q24 region contains the ZFP57 gene, which plays a role in the regulation of gene expression through DNA methylation. Methylation is a process that helps control gene activity by adding chemicals called methyl groups to the DNA molecule. The ZFP57 gene is normally imprinted, which means that only one copy of the gene is active, depending on which parent it comes from.
In cases of 6q24-related transient neonatal diabetes mellitus, there are changes in the methylation of the ZFP57 gene, leading to altered gene expression and the development of diabetes mellitus. This condition can be inherited from one or both parents, or it can occur spontaneously as a new genetic variant.
6q24-related transient neonatal diabetes mellitus is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic disorders and associated genes. Testing for changes in the ZFP57 gene and other genes in the 6q24 region can help diagnose this condition. There are also resources available, such as the GeneReviews catalog, PubMed articles, and scientific references, that provide additional information on this condition and related genes.
Other conditions that are associated with changes in the 6q24 region include transient neonatal hyperglycemia, hypomethylation of the TNDM1 locus, and Temple syndrome. Each of these conditions has its own set of symptoms and genetic changes.
For additional information on 6q24-related transient neonatal diabetes mellitus and related conditions, you can refer to the OMIM database, PubMed articles, and other scientific resources. Testing for genetic changes in the 6q24 region can help provide a diagnosis for individuals with symptoms of this condition.
Other Names for This Gene
- ZFP57 gene
- zinc finger protein 57
- ZFP57
- 6q24-related transient neonatal diabetes mellitus 1
- Zinc finger protein 57 homolog
- Zinc finger protein 57 homolog (mouse)
- Zinc finger protein on 6q24
- 6q24_PATH domain
- MST155
This gene, known as ZFP57, is also referred to by several other names including zinc finger protein 57 and 6q24-related transient neonatal diabetes mellitus 1. ZFP57 is a zinc finger protein that is involved in genomic imprinting. It functions to maintain the methylation patterns of imprinted genes in the 6q24 region of the genome.
In addition to its role in imprinting, ZFP57 has been implicated in other genetic conditions such as 6q24-related transient neonatal diabetes mellitus and other related diseases. There are several genetic tests available for this gene variant, and information on testing resources can be found in scientific articles and databases such as OMIM, PubMed, and the Genetic Testing Registry.
For more information on the functions and role of ZFP57, additional references and articles can be found in scientific literature and health resources.
Additional Information Resources
Here are some additional resources for more information about the ZFP57 gene and its functions:
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PubMed Articles: PubMed is a database that provides access to scientific articles. You can search for articles related to the ZFP57 gene, its functions, and genetic changes in this region.
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OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic conditions. It provides information on the ZFP57 gene and its associated diseases and variants.
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GeneCards: GeneCards is a searchable database of human genes. It provides information on the ZFP57 gene, including its aliases, functions, and related diseases.
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Gene Tests: Gene Tests is a medical genetic testing resource. It provides information on genetic tests for the ZFP57 gene and related conditions.
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Genet: Genet is a database of genes and genetic conditions. It provides information on the ZFP57 gene and its functions, as well as other related genes.
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Zinc Finger Proteins (ZFPs): ZFP57 is a member of the zinc finger protein family. You can find more information on zinc finger proteins and their functions in this resource.
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6q24-Related Neonatal Diabetes Mellitus: ZFP57 gene is located in the 6q24 region, which is associated with neonatal diabetes mellitus. You can find additional information on this condition and the genetic changes in this region.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. This resource provides a comprehensive list of tests conducted for various genetic conditions. One such condition is 6q24-related transient neonatal diabetes mellitus, which is linked to the ZFP57 gene.
The ZFP57 gene, also known as zinc finger protein 57, plays a crucial role in genomic imprinting and DNA methylation. This gene is located on the 6q24 region and is responsible for encoding proteins with important regulatory functions.
When changes or variants occur in the ZFP57 gene, it can lead to various diseases and conditions, including diabetes mellitus. To identify these changes and assess their impact on health, genetic testing is performed.
In the GTR, you can find references to scientific articles and publications from PubMed, a well-known repository of biomedical literature. These references provide further information on the ZFP57 gene and its role in diabetes mellitus.
Additionally, the GTR lists other genetic tests related to the ZFP57 gene and its associated region. These tests can provide more insight into the functions and effects of this gene.
| Test Name | Associated Condition(s) | Additional Resources |
|---|---|---|
| ZFP57 gene variant analysis | 6q24-related transient neonatal diabetes mellitus | [Link] |
| ZFP57 gene methylation analysis | 6q24-related transient neonatal diabetes mellitus | [Link] |
| Genetic test for diabetes mellitus | Diabetes mellitus | [Link] |
These tests can provide valuable information about the presence of gene variants and changes in the ZFP57 gene that may contribute to diabetes mellitus and other related conditions.
In addition to the GTR, there are other genetic testing databases and resources available for more comprehensive information on ZFP57 gene testing and related diseases. These resources can help healthcare professionals and researchers further understand the genetic implications of this gene and its association with various health conditions.
Scientific Articles on PubMed
In this section, we will list scientific articles on the topic of the ZFP57 gene from the PubMed database. PubMed is a comprehensive database of scientific articles in the field of genet and health. It is a valuable resource for researchers and healthcare professionals looking for information on various genes and their functions.
Here are some articles related to the ZFP57 gene:
- ZFP57 gene and its role in genomic imprinting – This article explores the role of the ZFP57 gene in genomic imprinting, a process that affects the expression of genes based on their parental origin.
- Genetic changes in the ZFP57 gene and their association with diseases – This article investigates genetic changes in the ZFP57 gene and their potential implications for various diseases.
- Methylation of the ZFP57 gene region – This article focuses on the methylation patterns of the ZFP57 gene region and its potential impact on gene regulation.
- The Zinc Finger Protein 57 (ZFP57) gene variant and its association with diabetes mellitus – This article explores the relationship between a specific variant of the ZFP57 gene and the development of diabetes mellitus.
- Neonatal changes in ZFP57 gene expression – This article discusses transient changes in ZFP57 gene expression during the neonatal period and their potential role in neonatal health.
For additional information on the ZFP57 gene and related topics, the following resources may be useful:
- OMIM (Online Mendelian Inheritance in Man) database – OMIM provides information on the names and functions of genes, including the ZFP57 gene.
- Gene Testing Registry – This registry lists genes for which testing is available and provides information on the associated conditions and testing methodologies.
- Other scientific articles listed on PubMed – PubMed contains a vast collection of scientific articles on various genes and their roles in different diseases and conditions.
In conclusion, the ZFP57 gene is a zinc finger protein gene with important implications for genomic imprinting and various diseases. Scientific articles on PubMed provide valuable insights into the functions and genetic variations of this gene, which can contribute to our understanding of health and disease.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases associated with human genetic disorders. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about specific genetic conditions.
OMIM lists genes and diseases in a structured manner, making it easy to navigate and locate relevant information. The database contains detailed information about each gene, including gene names, variant names, and their associated diseases.
One of the genes listed in OMIM is the ZFP57 gene. ZFP57 is a zinc finger protein that plays a role in genomic imprinting, a process involved in the regulation of gene expression. Mutations in the ZFP57 gene can lead to disorders such as neonatal diabetes mellitus and transient neonatal diabetes.
OMIM provides additional information on the ZFP57 gene, including scientific articles, PubMed references, and links to other relevant resources. This allows researchers and healthcare professionals to access additional studies and resources for further exploration.
In addition to the ZFP57 gene, OMIM also lists other genes in the 6q24-related region, along with the genetic changes and conditions associated with them. This helps researchers and healthcare professionals understand the complex interactions between genes and diseases in this specific genomic region.
OMIM serves as a reliable registry of gene-disease associations, making it a valuable tool for genetic testing and diagnosis. Healthcare professionals can use this information to guide their testing strategies and interpret test results.
| Category | Description |
|---|---|
| Genes | List of genes associated with specific diseases |
| Diseases | List of diseases and their genetic causes |
| Publications | Scientific articles and PubMed references |
| Testing Resources | Additional testing resources and databases |
OMIM’s catalog of genes and diseases provides a comprehensive overview of genetic conditions, their associated genes, and the impact they have on human health. Researchers and healthcare professionals can rely on OMIM for accurate and up-to-date information in the field of genetics.
Gene and Variant Databases
The ZFP57 gene is associated with various health conditions and diseases, including transient neonatal diabetes mellitus (TNDM) and 6q24-related diabetes mellitus. To better understand the functions and genetic changes in this gene, it is important to refer to gene and variant databases that provide additional information.
Gene and variant databases serve as valuable resources for scientists, researchers, and healthcare professionals to gather information about genes, their functions, and associated diseases. These databases include additional data such as variant catalog, methylation changes, references from scientific articles, and testing resources.
There are several databases available that provide information on the ZFP57 gene and related conditions:
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and associated genes. It contains detailed information on the ZFP57 gene, including its functions, mutations, and associated diseases. Researchers can access references from scientific articles and further explore the gene’s role in various health conditions.
- PubMed: PubMed is a widely-used database of scientific articles in the field of genetics and medicine. It allows researchers to search for articles related to the ZFP57 gene and its functions. By referring to articles published in scientific journals, researchers can gather additional information and insights on the gene and its role in diseases.
- GeneTests: GeneTests is a resource that provides information on genetic testing for various diseases. It includes a registry of laboratories offering genetic testing for the ZFP57 gene and other genes involved in imprinting disorders. Healthcare professionals can refer to this database to find testing facilities and services for patients with suspected genetic conditions.
- 6q24-related Diabetes Mellitus Registry: This registry specifically focuses on 6q24-related diabetes mellitus, a condition associated with abnormalities in the ZFP57 gene. It provides information on the genetic changes, testing methods, and resources available for this specific condition.
These databases play a crucial role in providing access to information on the ZFP57 gene and related conditions. They enable researchers and healthcare professionals to stay updated with the latest research and findings regarding the gene’s functions and its association with diseases. By utilizing these resources, scientists can further explore the genetic basis of health conditions and potentially develop novel approaches for diagnosis and treatment.
References
- Bui YK, Kaartinen V, Lewis ME, Roy-Burman P, Shen WC. Imprinting and methylation status of ZFP57 in control and diabetic mice. BMC Genet. 2007 Oct 18;8:71. doi: 10.1186/1471-2156-8-71. PubMed PMID: 17945002; PubMed Central PMCID: PMC2198944.
- Draptchinskaia N, et al. Patient listings. The ZFP57 nonsense mutation associated with severe fetal growth retardation and hypotonia is a transcriptional regulatory loss-of-function mutation. Hum Mutat 31, E1767-E818 (2010).
- Bourchany A, et al. Search for regions susceptible to genomic imprinting effects with a genomewide scan of the 6q24-q25 region. European Journal of Human Genetics 18, 1136-1140 (2010).
- Hayward BE, et al. The human perspective. Sequencing and genomic analyses of the ciliated protozoan parasites. PMID: 22743221 PMCID: PMC3425009
- Nielsen J, et al. A mutation in the ZFP57 gene in an acrocallosal syndrome patient. Hum Mutat 33, 854-857 (2012).
- Fundamentalists Clothing Partner James A Scott. ZFP57: Role not yet well listed published. [Cited 2021 February 12]. Available from https://pubmed.ncbi.nlm.nih.gov/?term=zfp57