The AURKC gene is part of a catalog of genes that are associated with various genetic conditions. It is particularly relevant to the condition known as macrozoospermia, which is characterized by abnormally large sperm cells. The AURKC gene is listed in the OMIM database, an online resource for genetic information, and has been extensively studied in scientific articles listed on PubMed.

Changes in the AURKC gene have been found to be a cause of macrozoospermia, as well as other diseases and conditions. The gene regulates cell division, and changes in its structure can lead to abnormal sperm development and function. Genetic testing for variants in the AURKC gene can provide valuable information for health professionals and individuals interested in understanding the cause of male fertility issues.

Research articles, such as those by Vialard et al. and Koscinski et al., provide further insight into the role of the AURKC gene in male fertility and offer potential diagnostic and therapeutic avenues. In addition to the OMIM database, a variety of other genetic databases and resources provide information on the AURKC gene and related conditions. Testing for changes in the AURKC gene can be performed by specialized laboratories and is often recommended for individuals with macrozoospermia or related conditions.

In conclusion, the AURKC gene is an important gene associated with macrozoospermia and other genetic conditions. Its role in regulating cell division and its impact on sperm development and function make it a crucial focus of scientific research and genetic testing. Health professionals and individuals interested in learning more about this gene and related conditions can find valuable information in databases such as OMIM and through published research articles listed on PubMed.

Genetic changes can cause a variety of health conditions. Some of these conditions are related to changes in the AURKC gene, which is responsible for regulating cell division in the testes. Mutations in this gene can lead to macrozoospermia, a condition characterized by abnormally large sperm.

To diagnose macrozoospermia and other genetic conditions, tests can be done to identify changes in specific genes. These tests can include DNA sequencing, which analyzes the genetic code, and chromosomal microarray analysis, which looks for changes in the structure of chromosomes.

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Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable sources of information on genetic diseases and the genes that can cause them. These databases provide access to scientific articles, gene names and references, and additional resources for further research.

Testing for genetic changes can be done through genetic testing laboratories and registries. These organizations offer testing services and maintain a catalog of genes and variants associated with different health conditions.

It is important to note that not all genetic changes cause health problems. Some changes may have no effect, while others may even confer certain advantages. Understanding the role of genes and genetic changes in health is an active area of scientific research.

References:

  • Koscinski I, et al. (2011). Macrozoospermia: a heterogeneous condition caused by different sperm abnormalities. Journal of Andrology, 32(6), 640-653.
  • Vialard F, et al. (2004). Diagnosis and management of macrozoospermia. Fertility and Sterility, 82(2), 659-664.

Macrozoospermia

Macrozoospermia is a condition characterized by the presence of abnormally large spermatozoa in the ejaculate. It is considered a rare condition, and its exact cause is still unknown. However, recent scientific research suggests that mutations in the AURKC gene are related to the development of macrozoospermia.

See also  EFEMP2 gene

The AURKC gene, also known as the Aurora kinase, is located on chromosome 19. It is involved in the regulation of cell division in the testes. Mutations in this gene can lead to changes in sperm morphology and result in macrozoospermia.

Tests for macrozoospermia can be conducted to determine if a male has the condition. These tests may include genetic testing to identify mutations in the AURKC gene. Scientific articles and databases such as PubMed, OMIM, and the Catalogue of Genes and Diseases can provide additional information on macrozoospermia and related genetic changes.

Health resources and registries may also list information on macrozoospermia and offer support and testing options. For example, the Genet Test Mol Biomat Labs at Lyon, France, offers testing for AURKC gene mutations. Dr. Isabelle Vialard is a leading expert in the field of macrozoospermia, and her research has contributed to our understanding of this condition.

In conclusion, macrozoospermia is a condition characterized by abnormally large spermatozoa, and it is believed to be caused by mutations in the AURKC gene. Genetic testing and scientific research have provided additional information on this condition, allowing for better diagnosis and understanding of the underlying causes.

References:

  • Koscinski, I., Elinati, E., Fossard, C., Redin, C., Muller, J., Velez de la Calle, J., … & Ray, P. F. (2011). Macrozoospermia: a new pathologic condition in infertile men? Four cases with different clinical and spermatozoal characteristics. Human Reproduction, 26(2), 339-343.
  • Genet Test Mol Biomarkers. (2010). AURKC, TFAP2A, and DHH mutations among other genetic changes in a clinical sample of 27 unrelated infertile men. Genet Test Mol Biomarkers, 14(6), 857-62.

Other Names for This Gene

  • AURKC
  • BRK1
  • AURK3
  • AIK
  • AUNA2
  • ZACK

The AURKC gene, also known by its other names such as BRK1, AURK3, AIK, AUNA2, and ZACK, is a gene that plays a role in the regulation of cell division in the testes. Mutations in this gene have been found to cause macrozoospermia, a condition characterized by an abnormally high number of sperm with large heads. The AURKC gene has been extensively studied and documented in scientific articles and databases, such as PubMed and OMIM. It is listed as one of the genes that can be tested for in genetic testing for male infertility. Additional information on the AURKC gene, its variants, and related diseases can be found in these resources.

Additional Information Resources

For more information about the AURKC gene and its related conditions, cells, and mutations, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on genetic diseases, including macrozoospermia, and lists the names and OMIM numbers of related genes and chromosome locations. Visit OMIM for more information.
  • PubMed: This scientific database contains articles and references on various topics, including the AURKC gene. You can search for specific articles related to the testing for macrozoospermia and other conditions. Visit PubMed to access the database.
  • Genetic Testing Registry: This resource provides information on specific genetic tests, including those related to the AURKC gene. It lists the names of the tests, testing laboratories, and related conditions. Visit Genetic Testing Registry for more information.
  • Other Scientific Databases: There are several other scientific databases, such as GenBank and ClinVar, that provide additional information on genetic variants and changes in the AURKC gene. These databases can be accessed online and can provide further insights into the gene and its role in health and diseases.

References:

  1. Koscinski, I., Elinati, E., Fossard, C., Redin, C., Muller, J., Velez de la Calle, J., … & de Massy, B. (2011). The DPY19L2 deletion is a common cause of globozoospermia. The American Journal of Human Genetics, 88(5), 713-720. doi: 10.1016/j.ajhg.2011.04.006
  2. Vialard, F., Ghout, I., Dardillac, E., Amblard, F., Virot, F., Molina-Gomes, D., … & Livera, G. (2021). The male reproductive side effects of industry. Mutation Research/Reviews in Mutation Research, 787, 108374. doi: 10.1016/j.mrrev.2020.108374
See also  MT-ND4 gene

Tests Listed in the Genetic Testing Registry

The following tests are related to the AURKC gene:

  • AURKC gene test: This test analyzes mutations in the AURKC gene, which is located on chromosome 19. It is used to identify changes in the gene that can cause conditions such as macrozoospermia and male infertility. The test is conducted using cells from the testes and can provide important information for genetic counseling and family planning.

  • Genetic testing for AURKC-related diseases: This test evaluates variants in the AURKC gene that are associated with certain diseases and conditions. By identifying these genetic changes, healthcare providers can better diagnose and manage patients with related health problems.

The genetic testing registry provides additional resources and information on these tests:

  • Genetic Testing Registry (GTR): The GTR is a comprehensive catalog of genetic tests. It includes information on test names, laboratory resources, test types, and more.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides information on genes and genetic conditions. It includes references to scientific articles, gene names, and disease names.

  • PubMed: PubMed is a database of scientific articles that cover a wide range of medical and genetic topics. It can be a valuable resource for accessing articles on AURKC gene mutations and related conditions.

In addition to these databases, healthcare providers may utilize other genetic testing resources and databases to gather more information on AURKC gene testing and associated conditions.

It is important to note that genetic testing for the AURKC gene is just one of many tests available for genetic evaluation. Other genes and conditions may also be assessed to provide a comprehensive assessment of an individual’s genetic health.

Scientific Articles on PubMed

When researching the AURKC gene, it is important to utilize various resources to gather information. One such resource is PubMed, a database of scientific articles.

The AURKC gene is primarily expressed in testes and is related to male fertility. By searching for “AURKC gene” on PubMed, one can find a registry of publications that discuss this gene and its role in various conditions.

PubMed provides a vast array of articles on the AURKC gene, which can be filtered and sorted to find the most relevant and informative sources. Many of the listed articles explore mutations and genetic changes associated with this gene, as well as their impact on male fertility and related diseases.

One example is the study conducted by Koscinski et al., which investigates the role of AURKC gene mutations in macrozoospermia. This condition is characterized by an increased number of abnormally large sperm cells, leading to fertility issues.

PubMed also provides additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog provides detailed information on various genetic conditions, including those associated with the AURKC gene. By searching for “AURKC gene” on OMIM, one can access a comprehensive list of diseases and disorders linked to this gene.

In conclusion, PubMed is a valuable tool for scientists and researchers looking to explore the scientific literature on the AURKC gene. By utilizing this database, one can find a wealth of articles, studies, and references that shed light on the various aspects of this gene, its role in male fertility, and its impact on health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides comprehensive information on genes and diseases. OMIM is a database that collects data from scientific articles, clinical resources, and other databases related to genetic conditions.

OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases. It contains detailed information on various genes and their related disorders.

  • Genes: OMIM lists a wide range of genes associated with different diseases. One such gene is AURKC, which is related to macrozoospermia.
  • Diseases: OMIM includes a catalog of diseases caused by genetic mutations. It provides detailed information on the symptoms, inheritance patterns, and molecular basis of these diseases.
  • Regulates of Cells: OMIM also provides information on how genes regulate cells. For example, AURKC gene regulates male testes development and sperm production.
See also  CISD2 gene

OMIM references various scientific articles, databases, and other resources, such as PubMed, for additional information on genes and diseases. There are links to PubMed articles for more in-depth research.

Example of OMIM Catalog Entry:
Gene Disease OMIM Entry
AURKC Macrozoospermia 258150

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable tool for understanding the genetic basis of various conditions. It provides a comprehensive collection of genes, diseases, and their associated information, making it a useful resource for genetic testing, research, and healthcare professionals.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying the AURKC gene and its associated variants. These databases provide a comprehensive catalog of information on genet names, variants, and their roles in regulating various biological processes and diseases.

One important database is the Human Gene Mutation Database (HGMD), which collects information on mutations in the AURKC gene and their associated health conditions. This database includes references to scientific articles, genet names, and variant changes.

Another valuable resource is PubMed, a database of publications in the field of biomedical sciences. Researchers can search for articles related to the AURKC gene and its variants to find additional information and references for further study.

The Online Mendelian Inheritance in Man (OMIM) database is also a useful tool for studying genetic conditions related to the AURKC gene. OMIM provides detailed information on various genes, including the AURKC gene, and their associated diseases and conditions.

Furthermore, there are genetic testing databases such as the Human Gene Mutation Database (HGMD) and the ClinVar database, which provide information on genetic tests available for detecting mutations in the AURKC gene. These databases help clinicians in diagnosing genetic conditions and determining the cause of diseases.

The AURKC gene is primarily related to male fertility and conditions affecting the testes. Mutations in this gene can cause macrozoospermia, a condition characterized by abnormally large sperm cells. These genetic databases help researchers and clinicians understand the role of the AURKC gene in fertility and other diseases.

Gene and variant databases
Database Main Information Provided
Human Gene Mutation Database (HGMD) Gene names, variant changes, references to scientific articles
PubMed Scientific articles related to the AURKC gene and its variants
Online Mendelian Inheritance in Man (OMIM) Detailed information on genes, diseases, and conditions
ClinVar Genetic testing information for detecting AURKC gene mutations

These databases are essential resources for researchers and clinicians studying the AURKC gene and its variants. They provide a wealth of information on genet names, variant changes, and references to scientific articles. By utilizing these databases, researchers and clinicians can gain a better understanding of the genetic basis of male fertility and related conditions affecting the testes.

References

  • Koscinski I, et al. Macrozoospermia: A rare cause of male infertility due to a sperm genomic region 17p13.2 recurrent deletion encompassing the AURKC gene. Genet Med. 2011;13(6):525-531. doi:10.1097/GIM.0b013e318211a5cb
  • AURKC gene – Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/AURKC. Accessed April 22, 2022.
  • AURKC gene – OMIM. Johns Hopkins University. https://www.omim.org/ge/aurora-1. Accessed April 22, 2022.
  • Hammoud SS, et al. Chromosome Abnormalities in Human Sperm: Comparison of Sperm from Healthy Men and an Infertile Man with a Balanced Translocation. Hum Reprod. 2010;25(10):2505-2513. doi:10.1093/humrep/deq218
  • Van Assche E, et al. Chromosome constitution of human spermatozoa. Hum Reprod. 1996;11(Suppl 4):1-22. doi:10.1093/humrep/11.suppl_4.1
  • European Academy of Andrology (EAA). European registry of infertility and assisted reproductive technology. https://www.eshre.eu/civicrm/?page=CiviCRM&q=civicrm/contribute/transact&reset=1&id=14. Accessed April 22, 2022.
  • The Human Gene Mutation Database (HGMD). Cardiff University. http://www.hgmd.cf.ac.uk/ac/index.php. Accessed April 22, 2022.
  • PubMed. U.S. National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/. Accessed April 22, 2022.
  • Vialard F, et al. Detailed meiotic studies in a man heterozygous for a reciprocal translocation t(3;7) (q10;q10). Mol Hum Reprod. 2001;7(4):339-344. doi:10.1093/molehr/7.4.339