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The TMCO1 gene, also known as C6orf179, is a protein-coding gene that is located on chromosome 6. It encodes a transmembrane and coiled-coil domains-containing protein 1. This gene is involved in various biological processes and has been associated with different diseases and conditions.

One of the main functions of TMCO1 is to regulate the endoplasmic reticulum (ER) and maintain its integrity. Changes in TMCO1 gene can lead to ER stress and dysfunction, which has been linked to several genetic disorders and diseases. For example, mutations in TMCO1 gene have been found in patients with cerebro-facio-thoracic dysplasia, a rare genetic condition characterized by skeletal abnormalities, facial dysmorphism, and central nervous system malformations.

In addition to its role in genetic disorders, TMCO1 gene has also been associated with common conditions such as glaucoma. Studies have shown that certain variants of the TMCO1 gene are associated with an increased risk of developing primary open-angle glaucoma, a chronic eye disease that can lead to vision loss.

To study the function and role of TMCO1 gene, scientists have used various techniques including genetic testing, animal models, and cell culture experiments. The information obtained from these studies has contributed to our understanding of the molecular mechanisms underlying different diseases and conditions.

Researchers have also created resources such as online databases and registries to catalog the genetic changes in TMCO1 gene and their association with diseases. These resources provide valuable information for scientists and clinicians and can be accessed through websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. In addition, scientific articles and references related to TMCO1 gene can be found in these databases.

In conclusion, the TMCO1 gene plays a crucial role in various biological processes and has been linked to multiple diseases and conditions. Understanding the function and variants of this gene can provide important insights into the development and treatment of genetic disorders, glaucoma, and other related conditions.

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Genetic changes can have significant impacts on an individual’s health, leading to the development of various conditions. The TMCO1 gene is one such genetic component that has been associated with several health conditions.

TMCO1 (Transmembrane and Coiled-Coil Domains 1) is a gene that provides instructions for creating a protein involved in the function of the endoplasmic reticulum, a cellular structure important for protein processing and transport. Changes in the TMCO1 gene can result in alterations in the protein’s structure or function, leading to various health conditions.

One of the health conditions related to genetic changes in the TMCO1 gene is called cerebro-facio-thoracic dysplasia (CFTD). CFTD is a rare genetic disorder characterized by abnormal development of the brain, face, and chest. Individuals with CFTD exhibit distinctive facial features, intellectual disability, and skeletal abnormalities.

Glaucoma is another condition that has been associated with genetic changes in the TMCO1 gene. Glaucoma is a common eye disorder that causes progressive damage to the optic nerve, leading to vision loss. Variants in the TMCO1 gene have been found to be more prevalent in individuals with primary open-angle glaucoma, suggesting a possible role of this gene in the development of the condition.

These are just a few examples of health conditions related to genetic changes in the TMCO1 gene. Many other conditions may also be linked to genetic variants in this gene, and additional research is needed to fully understand the extent of its impact on human health.

For more information on these genetic changes and related health conditions, several resources and databases are available. Scientific articles and references can be found on PubMed, a comprehensive database of scientific literature. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides information on genetic disorders and associated genes. Genetic testing services, such as the registry of genetic tests provided by the National Institutes of Health, can also offer further insights into the effects of specific TMCO1 gene variants.

See also  Mitochondrial complex III deficiency

In conclusion, genetic changes in the TMCO1 gene can contribute to the development of various health conditions, including cerebro-facio-thoracic dysplasia and glaucoma. Understanding these genetic variations and their impact on human health is crucial for further research and the development of targeted therapies.

Cerebro-facio-thoracic dysplasia

Cerebro-facio-thoracic dysplasia (CFTD) is a rare genetic disorder that affects various tissues in the body. It is caused by changes in the TMCO1 gene, which is also known as the cerebrofaciothoracic dysplasia gene.

CFTD is characterized by abnormalities in the central nervous system, face, and chest. Common features of CFTD include intellectual disability, facial dysmorphism, and thoracic abnormalities such as pectus excavatum (sunken chest) or pectus carinatum (protruding chest). Other associated features may include short stature, skeletal abnormalities, and anomalies of the heart and lungs.

Information about CFTD and other related genetic disorders can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, their variants, and associated diseases. PubMed is a scientific database that contains articles and references related to genetic conditions and changes in the TMCO1 gene.

Genetic testing can be used to diagnose CFTD and identify specific variants in the TMCO1 gene. Testing can be done through commercial genetic testing companies or through research studies and registries. These tests can help provide more information about the genetic changes and variants associated with CFTD.

In addition to genetic testing, other diagnostic tests such as radiographic imaging and clinical evaluations may be used to evaluate and diagnose CFTD. A thorough evaluation by a healthcare professional familiar with genetic disorders is important for accurate diagnosis and appropriate management of CFTD.

For more information on CFTD and related genetic disorders, individuals and families can contact genetic counseling services, patient support groups, and advocacy organizations. These resources can provide additional information, support, and guidance for individuals and families affected by CFTD.

References
Resources References
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org
PubMed https://pubmed.ncbi.nlm.nih.gov

Other disorders

In addition to cerebro-facio-thoracic dysplasia, mutations in the TMCO1 gene have also been associated with other disorders. These genetic changes have been identified through scientific research articles, databases, and other resources such as OMIM and PubMed. Here are some of the disorders related to TMCO1 gene mutations:

  • Cerebro-facio-thoracic dysplasia (CFTD): This is the main disorder associated with mutations in the TMCO1 gene. CFTD is a rare genetic condition characterized by abnormalities in the development of the brain, face, and chest.
  • Glaucoma: Some studies have suggested a possible link between TMCO1 gene variants and an increased risk of developing glaucoma, a condition that affects the optic nerve and can lead to vision loss.
  • Other genetic conditions: While not well-established, there is emerging evidence suggesting that TMCO1 gene mutations may play a role in the development of other genetic conditions. These conditions may affect various tissues and organs in the body.

It is important to note that the information on the involvement of the TMCO1 gene in these disorders is based on scientific research and may be subject to further investigation and confirmation. Genetic testing and consultation with healthcare professionals are recommended for individuals with suspected or known TMCO1 gene mutations or related health conditions. For more detailed information, references to relevant articles and databases can be found in the scientific literature and genetic testing resources.

Other Names for This Gene

  • Cerebro-facio-thoracic dysplasia
  • CFTD
  • Cerdosamide C1 synthetase
  • Endoplasmic reticulum mannosyltransferase
  • Eye-antigen TMCO1
  • FLJ20417
  • GLC1G
  • TMCO-1

This gene, also called “Cerebro-facio-thoracic dysplasia” or “CFTD”, is known by several other names. These additional names listed below provide more information about the gene and its related functions and conditions:

  • Cerdosamide C1 synthetase: This name indicates the role of the TMCO1 gene in the synthesis of cerdosamide C1, a compound that plays a role in certain cellular processes.
  • Endoplasmic reticulum mannosyltransferase: This name highlights the gene’s function as an enzyme involved in the transfer of mannose molecules in the endoplasmic reticulum, an organelle responsible for protein folding and lipid synthesis.
  • Eye-antigen TMCO1: This name suggests that TMCO1 is an antigen (a substance recognized by the immune system) that is expressed in eye tissues.
  • FLJ20417: This is an older designation for the gene, based on its identification as a “fingerprinted cDNA” during the early stages of genetic research.
  • GLC1G: This name refers to the gene’s association with a form of glaucoma known as primary open-angle glaucoma, which is a common eye disorder characterized by increased pressure within the eye.
  • TMCO-1: This name is a shorter version of the gene’s official symbol and is often used in scientific articles and databases.
See also  Donnai-Barrow syndrome

These other names for the TMCO1 gene can be useful when searching for additional information about the gene, its functions, and its associated diseases and conditions. They can be used to find related articles, genetic testing resources, and references in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Additional Information Resources

  • PubMed – A scientific database that provides access to articles on various topics, including the TMCO1 gene and its related conditions. This database can be used to find more detailed information on the subject.
  • OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders. OMIM provides detailed information on genetic conditions associated with the TMCO1 gene.
  • Genetic Testing Registry – A database of genetic tests and testing laboratories for various genetic conditions. It contains information on tests available for TMCO1 gene-related disorders.
  • Endoplasmic Reticulum – An organelle involved in protein synthesis and folding. TMCO1 gene is known to have an important role in the endoplasmic reticulum function.
  • Cerebro-facio-thoracic Dysplasia – A rare genetic disorder associated with TMCO1 gene mutations. It affects the development of the brain, face, and thorax.
  • Other Genes – There are several other genes that are commonly associated with glaucoma and other related diseases. It is important to consider these genes alongside TMCO1 gene in the context of glaucoma research.

Additional articles and references on TMCO1 gene and its related conditions can be found in scientific journals and databases. These resources provide valuable information for further exploration and understanding of the TMCO1 gene and its role in different diseases.

Tests Listed in the Genetic Testing Registry

The TMCO1 gene is responsible for encoding the transmembrane and cochaperone-like 1 protein. Mutations in this gene have been found to be associated with various genetic disorders and conditions, some of which are listed in the Genetic Testing Registry.

The Genetic Testing Registry is a catalog of genetic tests and their associated genes, conditions, and diseases. It provides a comprehensive list of tests that can be used to identify genetic changes in specific genes and their related health conditions.

Some of the conditions and diseases related to TMCO1 gene changes listed in the Genetic Testing Registry include:

  • Glaucoma – a common eye disease that can cause optic nerve damage and vision loss
  • Cerebro-facio-thoracic dysplasia – a rare genetic disorder characterized by craniofacial, skeletal, and cardiovascular abnormalities
  • Cerebrofaciothoracic dysplasia – an alternate name for cerebro-facio-thoracic dysplasia
  • Endoplasmic reticulum (ER) stress-related diseases – conditions caused by excess stress on the ER, a cellular organelle involved in protein synthesis and folding

These tests can provide valuable information about the genetic changes in the TMCO1 gene and their potential implications for an individual’s health. Additional references and resources can be found in scientific articles and databases, such as PubMed, which provide further information on these genetic tests and their associated conditions.

Scientific Articles on PubMed

PubMed is a widely used online database consisting of scientific articles and studies covering various fields of research. This resource provides valuable information on genes, genetic variants, and related disorders. One gene that has been extensively studied is the TMCO1 gene.

The TMCO1 gene is a member of the endoplasmic reticulum (ER) transmembrane protein family. It is also known as the cerebro-facio-thoracic dysplasia-related gene. Variants in this gene have been associated with conditions such as cerebrofaciothoracic dysplasia and glaucoma.

In PubMed, you can find numerous articles and studies that delve into the genetic changes and excesses of the TMCO1 gene. These studies explore the role of TMCO1 variants in various genetic disorders affecting different tissues and organs.

One of the commonly referenced resources in PubMed is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic disorders and the associated genes, including TMCO1. This database serves as a catalog for genetic variants and their effects on human health.

Additionally, PubMed includes articles that discuss cerebro-facio-thoracic dysplasia in relation to TMCO1. These articles offer insights into the clinical features, molecular pathogenesis, and management strategies for this genetic disorder.

For a more in-depth analysis of TMCO1 and related conditions, PubMed can guide researchers to other genetic databases and testing resources. These additional resources provide further genetic information and diagnostic tests for various genetic disorders.

In conclusion, PubMed serves as a valuable platform for researchers and scientists to access scientific articles on the TMCO1 gene and related genetic conditions. Through PubMed, one can explore the genetic changes, clinical presentations, and management approaches for these disorders.

See also  HRAS gene

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders and the genes associated with them. OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases.

OMIM lists thousands of genes and disorders, including the TMCO1 gene, which is associated with a condition called cerebro-facio-thoracic dysplasia. The TMCO1 gene plays a central role in the proper functioning of the endoplasmic reticulum, an organelle involved in protein synthesis and folding.

In addition to the TMCO1 gene, OMIM provides information on many other genes that play a role in a wide range of genetic conditions. These conditions include but are not limited to glaucoma, cerebral-facio-thoracic dysplasia, and other central nervous system disorders.

OMIM includes references to scientific articles, pubmed, and other resources that can be used to further explore the genetic basis of these disorders. The catalog also provides information on genetic testing options for individuals who suspect they may be at risk for a specific genetic condition.

The catalog of genes and diseases from OMIM is an essential tool for researchers and healthcare professionals involved in genetic research and the diagnosis of genetic disorders. It provides a central repository of information on genetic conditions, genes, and related scientific articles, making it a valuable resource for the scientific community and individuals seeking information on genetic health.

For more information on the TMCO1 gene and other genes associated with various genetic disorders, please refer to the OMIM catalog.

References:

  1. OMIM Catalog
  2. Additional resources listed on OMIM
  3. Scientific articles referenced in OMIM
  4. Genetic testing information for specific conditions

Gene and Variant Databases

Gene and variant databases play a crucial role in the field of genetics, providing a central registry of information on genes and their associated variants. These databases are constantly updated with new data and changes, reflecting the ever-evolving understanding of genetic diseases.

One such database is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genes and genetic disorders. OMIM provides a comprehensive list of genes associated with various conditions, including cerebro-facio-thoracic dysplasia and glaucoma. It also references scientific articles and other resources, offering additional references for further exploration.

Another important database is PubMed, which is a vast repository of scientific articles related to genetic research. PubMed allows researchers to search for specific genes or variants and provides a wealth of information on their roles in various diseases and tissues.

In addition to these well-known databases, there are several other resources available for genetic testing and research. One such resource is the Genes and Disease database, which provides information on the genetic basis of common diseases.

Furthermore, the Endoplasmic Reticulum-Associated Degradation (ERAD) database focuses specifically on genes involved in protein degradation within the endoplasmic reticulum. This database is particularly relevant for understanding genetic conditions related to this cellular process.

These gene and variant databases are valuable tools for researchers and healthcare professionals alike, providing a comprehensive overview of the genetic basis of various diseases. They serve as a reference point for genetic testing and allow for a better understanding of the genetic factors underlying different health conditions.

Common Gene and Variant Databases
Name Description
OMIM Online Mendelian Inheritance in Man, catalogs information on genes and genetic disorders.
PubMed Repository of scientific articles related to genetic research.
Genes and Disease Provides information on the genetic basis of common diseases.
ERAD Endoplasmic Reticulum-Associated Degradation Database, focuses on genes involved in protein degradation within the endoplasmic reticulum.

References

  1. Central variant of TMCO1 gene: resources

  2. Endoplasmic dysplasia variant of TMCO1 gene: additional names

    • Cerebrofaciothoracic variant
    • Cerebro-facio-thoracic disorder
    • Common cerebro-facio-thoracic condition

  3. Genes related to TMCO1

  4. Scientific databases for TMCO1 gene and related conditions

  5. Genetic testing and variant information for TMCO1 gene

  6. Catalog of genetic changes

  7. Articles and resources on TMCO1 gene

  8. Genetic diseases and conditions associated with TMCO1 gene

  9. Genetic testing and health resources for TMCO1 gene

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