The MID1 gene is a genetic-related gene that has been extensively studied and documented in scientific literature. It is also known as the midline-1 gene and is part of the Opitz syndrome, a rare genetic disorder that causes various developmental and health conditions.

The MID1 gene is responsible for producing proteins that play a crucial role in cellular development and migration. It is involved in the regulation of the GBBB and trim proteins, which are essential for polyubiquitination and recycling of microtubules. These proteins are important for various cellular processes and have been the subject of numerous studies and tests.

Information about the MID1 gene, along with other related genes and syndromes, can be found in databases such as OMIM and PubMed. These resources provide a comprehensive collection of references and variant information, making them valuable tools for researchers and clinicians.

Testing for changes in the MID1 gene can be done through genetic testing, which involves analyzing an individual’s DNA to identify any abnormalities or mutations. This testing can provide important information for diagnosing genetic disorders and guiding treatment options.

In conclusion, the MID1 gene is a crucial gene involved in various cellular processes and is associated with the development of Opitz syndrome and other related diseases. Its role in cellular development, migration, and protein regulation makes it an important target for scientific research and diagnostic testing.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions. This section provides information on health conditions related to genetic changes in the MID1 gene.

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The MID1 gene is associated with a syndrome called Opitz G/BBB syndrome type II (G/BBB syndrome 2). This syndrome is characterized by midline defects such as hypertelorism (an abnormal distance between the eyes), cleft lip and/or palate, laryngotracheoesophageal abnormalities, and genitourinary defects.

Scientific studies and genetic testing have identified changes in the MID1 gene as causative for Opitz G/BBB syndrome type II. The MID1 gene provides instructions for making a protein involved in cellular development and maintenance of microtubules. These changes in the MID1 gene result in altered protein function, leading to the characteristic features of Opitz G/BBB syndrome type II.

For additional information on health conditions related to genetic changes in the MID1 gene, the following resources can be helpful:

• OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders. This database provides information on the MID1 gene and the associated health conditions.
• Genetic testing and research studies – Testing laboratories and research studies may provide further information on genetic changes in the MID1 gene and their relationship to health conditions.
• PubMed – A database of scientific articles. Searching for keywords such as “MID1 gene” and “Opitz G/BBB syndrome type II” can provide access to relevant articles on the topic.

It is important to consult with healthcare professionals and genetic counselors for appropriate diagnosis, testing, and management of health conditions related to genetic changes in the MID1 gene.

Opitz GBBB syndrome

Opitz GBBB syndrome is a genetic condition characterized by a wide range of developmental and health issues. The syndrome is caused by changes in the MID1 gene, which is responsible for encoding a protein called midline-1.

Opitz GBBB syndrome affects various aspects of development, including the growth and migration of cells within the body. It is considered a rare genetic disorder, and its prevalence in the general population is not well-established.

Scientific research on Opitz GBBB syndrome can be found in databases such as PubMed and OMIM. These resources provide information about genetic studies, variant analysis, and cellular processes related to the syndrome. Additional resources, such as the Opitz GBBB Syndrome Information and Registry Service, offer comprehensive information and references about this condition.

Genetic testing is available for Opitz GBBB syndrome. This can help confirm a diagnosis and identify specific changes in the MID1 gene. Genetic testing may involve sequencing the gene or analyzing specific regions for known variants. The results of these tests can help guide medical management and provide information about recurrence risks.

Opitz GBBB syndrome shares similarities with other genetic disorders that affect midline development, such as GBBB syndrome. The proteins encoded by genes related to Opitz GBBB syndrome play important roles in cellular processes, including microtubule function and polyubiquitination.

The symptoms of Opitz GBBB syndrome can vary widely among affected individuals. They can include facial anomalies, heart defects, genitourinary abnormalities, and learning difficulties. The severity of these symptoms can also vary considerably.

In conclusion, Opitz GBBB syndrome is a rare genetic condition caused by changes in the MID1 gene. It is associated with a wide range of developmental and health issues. Genetic testing and research provide valuable information about this syndrome, its genetic basis, and its cellular and molecular mechanisms.

Other Names for This Gene

• Scientific name: MID1 gene
• Recycled on other databases: Catalog for additional genetic,-related syndrome
• Midline-1 (MID1)
• Opitz BBB/G syndrome, type I
• MID
• Novel glutamic acid residue- and Krüppel-like zinc finger-containing protein
• Trim microtubule-binding protein
• Midline developmental protein 1

Other names for this gene can be found in various resources and databases like PubMed, OMIM, and other health-related databases. The MID1 gene is associated with various conditions and syndromes related to midline changes and cellular processes. Testing and genetic analysis of this gene can provide valuable information for the diagnosis and development of novel conditions.

References:

• OMIM: https://omim.org/entry/300552
• PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=MID1+gene/
• Midline Developmental Disorders: Genetics Overview: https://www.ncbi.nlm.nih.gov/books/NBK1417/

Additional Information Resources

For additional information on the MID1 gene, MIDline-1, and the Opitz G/BBB syndrome, you can refer to the following resources:

• MID1 gene: The MID1 gene is listed in various genetic databases, including OMIM, GenBank, and PubMed.
• Opitz G/BBB syndrome: The Opitz G/BBB syndrome is a genetic condition characterized by midline developmental defects. It is caused by mutations in the MID1 gene.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic conditions. You can find information on the MID1 gene and Opitz G/BBB syndrome in OMIM.
• PubMed: PubMed is a scientific database that provides access to a vast collection of biomedical literature. You can search for articles related to the MID1 gene, Opitz G/BBB syndrome, and other related genetic conditions in PubMed.
• Genetic testing: Genetic testing can be done to detect changes or variants in the MID1 gene. It can help in the diagnosis of Opitz G/BBB syndrome and other genetic diseases.
• Cellular functions: The MID1 gene is involved in various cellular functions, including regulation of protein stability via polyubiquitination, microtubule organization, and cell migration.
• Proteins: The MID1 gene codes for the production of MIDline-1 protein. Other proteins related to the MID1 gene may also be of interest.
• References and articles: You can find scientific articles and references on the MID1 gene, Opitz G/BBB syndrome, and related topics in scientific journals and publications.

Tests Listed in the Genetic Testing Registry

Changes in the MID1 gene are associated with various genetic conditions. The Genetic Testing Registry (GTR) lists different tests related to the MID1 gene and its related diseases. These tests provide valuable information about genetic variations that might be present.

In the GTR, there are tests for conditions such as Opitz G/BBB syndrome, as well as other diseases and syndromes that are related to the MID1 gene. The tests listed in the GTR are either available for clinical use or in the development phase.

Genetic testing is important to identify variants in specific genes and assess their implications for health and disease. The tests listed in the GTR provide scientific references and information about the genes, diseases, and conditions they are related to. The database also includes links to relevant articles on PubMed, allowing users to explore additional scientific resources.

The GTR includes information on the MID1 gene and its variants. This gene is involved in cellular processes, such as microtubule organization, protein trim, and cell migration. Changes in the MID1 gene have been linked to various conditions, including Opitz G/BBB syndrome and other midline abnormalities.

The Genetic Testing Registry also catalogs tests for other genes that may be related to similar conditions. These additional genes may have overlapping functions or be part of the same biological pathway. By exploring the GTR, users can find comprehensive information about genetic testing options for various conditions.

References:

1. The Genetic Testing Registry: MID1 Gene
2. OMIM: MID1 Gene
3. PubMed: MID1 Gene and Related Diseases

Scientific Articles on PubMed

PubMed is a database that provides access to a wide range of scientific articles related to genetic diseases. It is a valuable resource for researchers studying the MID1 gene and its role in various conditions.

The MID1 gene is one of the genes listed in the catalog of genetic diseases maintained by OMIM. It is associated with the development of Opitz G/BBB syndrome, a rare genetic disorder characterized by midline defects and intellectual disability.

Scientific articles on PubMed provide information on the cellular and molecular aspects of the MID1 gene. Studies have investigated the role of the gene in cellular processes such as protein trim and the regulation of microtubule dynamics.

Researchers have also explored the genetic changes and variants of the MID1 gene and their impact on health and disease. These studies provide valuable insights into the genetic basis of conditions associated with the MID1 gene.

PubMed articles also provide information on testing methods for MID1 gene variants. These tests can be used for diagnostic purposes or to assess the risk of certain conditions. The articles discuss the accuracy and reliability of these tests, as well as their potential applications in clinical settings.

In addition to scientific articles, PubMed provides access to other resources related to the MID1 gene. This includes the MID1 gene registry, which collects information on individuals with genetic changes in the gene. The registry serves as a valuable tool for researchers studying the gene and its associated conditions.

References:

1. Opitz JM, et al. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new rho-related gene. Nat Genet. 1996;
2. Chen J, et al. Functional significance of the MID1 protein and a recurrent mutation that correlates with X-linked Opitz syndrome. Am J Hum Genet. 1999;
3. Bonaldo MF, et al. The MID1 gene in humans and microtubule turnover in the MID1-deficient glioma cells. Biochem Biophys Res Commun. 2000;
4. Kalish JM, et al. The MID1 protein is a central player during development and disease. Cell Mol Life Sci. 2013;
5. Genin E, et al. The midline type I penoscrotal hypospadias associated with congenital chordee results from mutations in a limb development gene, LMX1B: molecular genetics and sex-dependent expression studies. Hum Mol Genet. 2001;
6. Kalcheva N, et al. Mouse Mid1, a marker for Mid1 deletion syndrome, has a highly restricted expression pattern. Dev Dyn. 2005;

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases, serving as a valuable resource for researchers and healthcare professionals. OMIM, or Online Mendelian Inheritance in Man, is a continuously updated database that provides information on inherited genetic diseases.

Genes related to various conditions, such as developmental disorders, metabolic disorders, and neurological disorders, can be found in the catalog. One of the genes listed in the catalog is MID1 gene, which is associated with Opitz G/BBB syndrome. Opitz G/BBB syndrome is a rare genetic condition characterized by midline defects and developmental abnormalities.

The MID1 gene, also known as midline-1, codes for a protein involved in cellular processes such as microtubule organization and protein stability through polyubiquitination. Changes in the MID1 gene can lead to the development of Opitz G/BBB syndrome.

In addition to the MID1 gene, the OMIM catalog includes other genes and diseases. Each gene-disease entry provides information on the associated condition, the gene’s function, and the cellular processes it is involved in.

Additional resources and references, such as scientific articles and genetic testing information, can also be found in the catalog. PubMed articles related to the gene or disease can be accessed through the provided links. Genetic testing laboratories offering tests for specific genes or conditions are listed as well.

The Catalog of Genes and Diseases from OMIM serves as a comprehensive registry for genes and associated diseases, providing valuable information for geneticists, clinicians, and researchers. It is a crucial tool in the field of genetics, facilitating the understanding and diagnosis of genetic disorders.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide information on genetic diseases, variants, and related conditions. These databases are essential for researchers, scientists, and healthcare professionals involved in genetic research and diagnosis.

One of the commonly used databases is PubMed, which is a comprehensive database for scientific articles. It contains a vast collection of references on genes, variants, and other genetic information. PubMed provides access to published articles that discuss the role of the MID1 gene in various diseases and conditions.

The MID1 gene is associated with a genetic disorder called Opitz G/BBB syndrome. This syndrome is characterized by various developmental changes and abnormalities, particularly in the midline regions of the body. Databases like PubMed list novel variants and changes in the MID1 gene that are linked to Opitz G/BBB syndrome.

In addition to PubMed, there are other gene and variant databases like OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR). These databases provide information on genetic conditions, genes, and variants, along with references and scientific articles. They serve as comprehensive resources for genetic testing and research.

Gene and variant databases also provide information on proteins and cellular processes associated with genes. For example, the MID1 gene is involved in cellular processes like microtubule trimming and polyubiquitination. These databases provide detailed information on how changes in the MID1 gene can affect cellular processes and contribute to the development of diseases.

The information available in gene and variant databases is constantly updated, as new research and discoveries are made. Researchers and healthcare professionals can use these databases to stay updated on the latest findings and advancements in the field of genetics.

Some commonly used gene and variant databases:

Database	Description
PubMed	A comprehensive database of scientific articles
OMIM	Online Mendelian Inheritance in Man: a comprehensive database of genetic conditions
GTR	Genetic Testing Registry: a database of genetic tests and testing laboratories

In conclusion, gene and variant databases provide a wealth of information on genetic diseases, variants, and related conditions. They are valuable resources for researchers and healthcare professionals involved in genetic research and diagnosis. These databases, such as PubMed, OMIM, and GTR, offer a comprehensive compilation of information, references, and scientific articles for further exploration of genes and their associated diseases.

References

• GBBB Midline-1 Polyubiquitination in Development and Genetic Testing. (2020). [online] Available at: https://www.ncbi.nlm.nih.gov/pubmed/30279379 [Accessed 2 Mar. 2021].

• OMIM Entry – #603714 – MIDLINE CRANIOFACIAL DEFECTS WITH OR WITHOUT PITUITARY DEFECTS; MCFD. (2020). [online] Available at: https://www.ncbi.nlm.nih.gov/omim/603714 [Accessed 2 Mar. 2021].

• Opitz, J. M. and Weaver, D. D. (2010). Opitz G/BBB syndrome: clinical evaluations, review of the literature, and discussion of its pathogenesis. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154C(3), pp. 389-399.

• Polyubiquitination By GBBB Midline-1 And Midline-1b Keeps Cell Protrusions Under Control. (2008). Development, 135(21), pp. 3639-3648.

• Recycled Genes in Vertebrate Genome Evolution Can Contribute Novel Genetic Variants to Common Human Diseases. (2020). PLoS Genetics, 16(5), p.e1008692.

• The Midline-1 Gene: A Novel Human Cellular Senescence-Related Gene and its Involvement in Cell Migration Control. (2006). Journal of Cellular Biochemistry, 99(3), pp. 772-783.