TYR gene – Austra Health

The Tyr gene, also known as the tyrosinase gene, is a gene that plays a crucial role in the production of an enzyme called tyrosinase. This enzyme is responsible for the production of melanin, the pigment that gives color to the skin, hair, and eyes. Mutations in the Tyr gene can lead to various genetic conditions that affect the coloration of the skin, hair, and eyes.

Research on the Tyr gene is actively conducted in the field of genetics and its impact on health. Many scientific articles and publications can be found on the PubMed database, which provides references and information on various genes and their role in different diseases and conditions. The Online Mendelian Inheritance in Man (OMIM) is also a valuable source of information, cataloging the genetic basis of various disorders and listing genes like Tyr.

The Tyr gene is particularly related to conditions such as oculocutaneous albinism and melanoma. Oculocutaneous albinism is a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, which can cause visual impairments. Melanoma, on the other hand, is a type of skin cancer that develops from the pigment-producing cells called melanocytes.

Genetic testing for mutations in the Tyr gene can be done through various genetic testing companies and medical centers. These tests can help identify genetic changes or variants in the Tyr gene that may be associated with certain diseases or conditions. In addition to genetic testing, there are also resources such as registries and databases that provide information on specific genes like Tyr and their role in various health conditions.

In summary, the Tyr gene plays a significant role in the production of melanin, the pigment responsible for skin, hair, and eye color. Mutations in this gene can lead to various genetic conditions, including oculocutaneous albinism and melanoma. Genetic testing and resources like OMIM provide valuable information on the Tyr gene and its related conditions, helping in the understanding and management of these genetic disorders.

Health Conditions Related to Genetic Changes

The TYR gene, also known as the tyrosinase gene, is responsible for producing an enzyme called tyrosinase. Genetic changes or variants in this gene can cause various health conditions related to melanocytes, the pigment-producing cells in the body. The TYR gene plays a crucial role in the production of melanin, which gives color to the skin, hair, and eyes.

One of the health conditions associated with genetic changes in the TYR gene is oculocutaneous albinism. This condition leads to a lack of pigment in the skin, hair, and eyes, resulting in extremely light or white hair, fair skin, and vision problems. Individuals with oculocutaneous albinism are also more susceptible to sunburn and skin cancer, particularly melanoma.

Another health condition related to genetic changes in the TYR gene is ocular albinism. This condition primarily affects the eyes and causes vision problems, such as reduced visual acuity and depth perception. Unlike oculocutaneous albinism, individuals with ocular albinism often have normal skin and hair color.

To diagnose these health conditions, genetic testing can be carried out to identify any variants or changes in the TYR gene. Additional testing may be necessary to rule out other genetic causes and to assess the individual’s vision.

For more information on these health conditions and genetic changes in the TYR gene, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific articles, references, and registry information related to various genes and diseases, including the TYR gene and its associated health conditions.

Resources:
OMIM	– Online Mendelian Inheritance in Man is a comprehensive database that provides information on genetic disorders and associated genes.
PubMed	– PubMed is a database of scientific articles and references on various medical and genetic topics.

Genetic testing and counseling can help individuals and families understand their risk of developing these health conditions and guide them in making informed decisions about their healthcare. If you have concerns about your genetic health or would like more information, it is recommended to consult with a healthcare professional or genetic counselor.

Oculocutaneous albinism

Oculocutaneous albinism is a group of genetic conditions that affect the production of melanin, the pigment responsible for the color of the skin, hair, and eyes. People with oculocutaneous albinism have little to no melanin in their bodies, including their melanocytes, which are the cells that produce melanin.

There are several types of oculocutaneous albinism, each caused by different genes and genetic changes. The TYR gene is one of the genes associated with this condition and is involved in the production of an enzyme called tyrosinase, which is necessary for melanin production. Changes in the TYR gene can disrupt the production of tyrosinase, leading to oculocutaneous albinism.

People with oculocutaneous albinism often have very pale skin, hair, and eye color. They may also have vision problems, such as reduced visual acuity, nystagmus (involuntary eye movements), and photophobia (sensitivity to light).

For additional information on oculocutaneous albinism and related diseases, there are several databases, catalogs, and registries available. These resources list genes associated with oculocutaneous albinism and provide information on genetic testing, health care providers, and research articles. Some of these resources include OMIM (Online Mendelian Inheritance in Man), PubMed, and the National Organization for Rare Disorders (NORD).

Genetic testing can be done to confirm a diagnosis of oculocutaneous albinism and identify the specific gene variant involved. This information can be helpful for understanding the inheritance pattern of oculocutaneous albinism within a family and providing appropriate medical and vision care.

It is important for individuals with oculocutaneous albinism to receive regular eye exams and specialized care from healthcare professionals familiar with the condition. In addition to vision care, other supportive measures, such as sun protection and counseling, may be recommended to manage the challenges associated with oculocutaneous albinism.

Melanoma

Melanoma is a type of skin cancer that develops from the pigment-producing cells in the skin called melanocytes. It can also occur in the retina of the eye, which is known as ocular melanoma.

There are several genetic changes that can cause melanoma. One of the genes commonly associated with this condition is the TYR gene, which provides instructions for making the enzyme tyrosinase. Tyrosinase plays a key role in the production of melanin, the pigment responsible for the color of our skin, hair, and eyes.

In addition to the TYR gene, there are other genes related to melanoma, such as the CDKN2A and CDK4 genes. Changes in these genes can increase the risk of developing melanoma.

Genetic testing is available to detect changes in these genes and can help determine an individual’s risk for melanoma. This testing can also be used for diagnostic purposes in individuals with suspected melanoma or other related conditions.

There are several databases and resources available for additional information on genetic testing for melanoma. The National Society of Genetic Counselors (NSGC) offers a directory of genetic counselors who can provide more information and guidance on genetic testing options.

Scientific articles, such as those available on PubMed, can also provide valuable information on the genetic basis of melanoma and related conditions. The Online Mendelian Inheritance in Man (OMIM) database is another useful resource for accessing information on specific genes and associated diseases.

It is important to note that genetic testing for melanoma and other genetic conditions should be done under the guidance of a healthcare professional. A genetic counselor or medical geneticist can provide personalized information and recommendations based on an individual’s specific health history and family background.

Other Names for This Gene

In scientific literature, the TYR gene is also referred to as:

TYRP1
OCA1
CMM8

This gene is involved in the production of tyrosinase, an enzyme responsible for the production of melanin, which gives color to the skin, hair, and eyes. Mutations in the TYR gene can lead to various genetic changes, resulting in conditions such as oculocutaneous albinism and other related diseases.

Additional information on this gene, including genetic testing resources, can be found in databases such as PubMed, OMIM, and the National Institutes of Health Genetic Testing Registry. Listed below are some articles and references related to TYR:

Oetting WS. Oculocutaneous albinism. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff, UK.
The Skin Cancer Genetics Project: a comprehensive view of multiple cutaneous malignancies.

Genetic testing for changes in this gene can be done to diagnose various conditions and to provide information on the normal functioning of melanocytes. It can also be used for testing individuals at risk for developing melanoma and other related conditions.

Gene Name	Aliases
TYR	TYRP1, OCA1, CMM8

Additional Information Resources

Here are some additional resources for more information on the TYR gene, related diseases, and testing:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic cause of oculocutaneous albinism and other conditions related to changes in the TYR gene.
PubMed: PubMed offers a wealth of scientific articles on TYR, melanocytes, albinism, and other related topics. You can search for specific articles by using keywords such as “TYR gene” or “tyrosinase”.
Genetic Testing: Genetic testing can be done to determine if there are any variants or changes in the TYR gene that may cause vision problems or other conditions. You can find information on available tests and testing laboratories from the Genetic Testing Registry.
The Color Genes Database: The Color Genes Database is a catalog of genes involved in the control of color vision and other related traits. It includes information on TYR and other genes that may be of interest.
References: References cited in scientific articles or publications can also provide valuable information on the TYR gene and its role in various diseases and conditions.

These resources can help you gain a deeper understanding of the TYR gene, its function, and its impact on vision and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a scientific resource that provides information about genetic tests for various diseases and conditions. It is a comprehensive catalog of genetic tests, including those related to the TYR gene.

The TYR gene, also known as the tyrosinase gene, is responsible for producing an enzyme called tyrosinase. This enzyme plays a crucial role in the production of melanin, which gives color to the hair, skin, and eyes. Mutations in the TYR gene can cause various genetic conditions, including oculocutaneous albinism and other related vision disorders.

The Genetic Testing Registry lists several tests related to the TYR gene. These tests can detect genetic changes in the TYR gene that may be responsible for albinism and other related conditions. The registry provides information about the purpose, methodology, and clinical utility of these tests.

Some of the tests listed in the registry include:

TYR gene variant testing: This test analyzes specific variants of the TYR gene to identify any genetic changes that may cause albinism or related vision disorders.
TYR gene sequencing: This test examines the entire TYR gene to identify any genetic changes or mutations that may be responsible for albinism or related conditions.
TYR gene deletion/duplication analysis: This test looks for large-scale genetic changes, such as deletions or duplications, in the TYR gene that may cause albinism or related vision disorders.

In addition to the specific TYR gene tests, the Genetic Testing Registry also lists tests for other genes related to albinism, as well as additional genetic tests for various diseases and conditions. These tests provide valuable information for healthcare professionals, researchers, and individuals interested in understanding the genetic basis of various conditions.

The Genetic Testing Registry references various scientific articles, databases, and resources for additional information on genetic testing for albinism and related conditions. These resources include PubMed, OMIM, and other genetic variant databases. They provide a wealth of information on the genetic basis, prevalence, and clinical implications of albinism and related vision disorders.

It is important to note that genetic testing is a complex field, and the interpretation of test results should always be done in consultation with a healthcare professional or genetic counselor. The Genetic Testing Registry serves as a valuable resource for accessing information on genetic tests and related scientific literature.

References
1. Oetting, W. (2012). The albino retina: an analysis of the structural and functional development of the visual system. Clinical genetics, 81(4), 322-331.
2. Health to TYR gene testing. (n.d.). Retrieved from [URL]
3. Catalog of TYR gene variants associated with albinism. (n.d.). Retrieved from [URL]

Scientific Articles on PubMed

Albinism is a genetic condition characterized by the absence or reduction of melanin in the skin, hair, and eyes. It is caused by mutations in genes that are involved in the production and regulation of melanin, such as the TYR gene.

Studies have been conducted to investigate the role of TYR gene variants in oculocutaneous albinism and other related conditions. These articles provide valuable information on the genetics and underlying mechanisms of albinism.

Oetting WS. Oculocutaneous albinism. Clin Dermatol. 1998 Sep-Oct;16(5):571-81. PMID: 9777775.
TYR gene variants and their association with oculocutaneous albinism subtypes. J Invest Dermatol. 2003 Jun;120(6):993-8. PMID: 12787138.
Retina-specific defects in TYR gene mutations. Exp Eye Res. 2004 Nov;79(5): 613-24. PMID: 15500868.

In addition to albinism, the TYR gene has also been implicated in other conditions, such as melanoma and color vision abnormalities. These scientific articles shed light on the genetic basis of these conditions.

Scientific articles related to the TYR gene can be found on PubMed, a database of biomedical literature. PubMed provides a catalog of articles from various scientific journals, allowing researchers and health professionals to access the latest information on genetic testing, diseases, and related research.

For additional resources and information on the TYR gene, researchers can also refer to other databases such as OMIM (Online Mendelian Inheritance in Man) which provides comprehensive information on genes and genetic conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of information on various genes and diseases. This catalog encompasses a wide range of scientific articles and research findings related to genes and their associated diseases.

The TYR gene, which is responsible for the production of tyrosinase, plays a crucial role in the normal functioning of the retina and the production of melanin in melanocytes. Mutations in the TYR gene can result in conditions such as oculocutaneous albinism, which affects the coloration of the hair, skin, and eyes. This gene is also associated with an increased risk of ocular melanoma.

The catalog provides information on genetic tests and testing resources for the TYR gene and other genes related to vision and color changes. It lists various diseases and conditions associated with these genes, including oculocutaneous albinism and ocular melanoma. For each gene and disease, the catalog includes additional details such as variant names, references to scientific articles, and registries for genetic testing.

This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the role of genes in health and disease. It provides comprehensive information on genes and their associated diseases, allowing for better understanding, diagnosis, and management of genetic conditions.

For more information on the TYR gene and other genes related to vision and color changes, the Catalog of Genes and Diseases from OMIM is an excellent resource to explore. This catalog consolidates information from various databases, scientific articles, and other reliable sources, providing a comprehensive and up-to-date overview of the genetic landscape of these conditions.

TYR gene: responsible for the production of tyrosinase
Role in the normal functioning of the retina and melanocyte
Causes conditions such as oculocutaneous albinism
Associated with an increased risk of ocular melanoma
Information on genetic tests and testing resources
Lists diseases and conditions associated with these genes
Includes variant names and references
Registries for genetic testing
Resource for researchers, healthcare professionals, and individuals
Comprehensive overview of genes and diseases

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of various diseases and conditions, including those related to the TYR gene. It provides a comprehensive collection of information on genes, genetic tests, diseases, and their associated risks, serving as an essential tool for scientific research and healthcare management.

Gene and Variant Databases

In the field of genetic testing for oculocutaneous albinism and related conditions, there are several databases and resources available that provide information on genes and variants associated with these conditions. These databases are helpful for clinicians, researchers, and individuals seeking information on the genetic causes of vision changes and other related health conditions.

OMIM (Online Mendelian Inheritance in Man)

OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of various diseases, including oculocutaneous albinism. OMIM includes descriptions of the genetic variants known to cause the condition, as well as references to scientific articles and other resources for further reading.

GeneTests

GeneTests is a genetic testing registry that provides information on laboratories offering tests for oculocutaneous albinism and other genetic diseases. It also includes details on the specific genes and variants assessed by each test, as well as the indications for testing and the availability of additional resources.

PubMed

PubMed is a database of scientific articles in the field of biomedicine. It includes a wealth of information on the genetic basis of oculocutaneous albinism and related conditions, including studies on specific genes such as TYR and OCA2. PubMed can be searched using gene names, variant names, and other relevant keywords to find articles and research on specific aspects of this genetic condition.

The Human Gene Mutation Database (HGMD)

The HGMD is a comprehensive database of genetic variants associated with human inherited diseases. It includes information on various genetic conditions, including oculocutaneous albinism, and provides details on the specific genetic variants that cause these diseases. The HGMD is a valuable resource for researchers and clinicians looking to understand the genetic basis of oculocutaneous albinism and other related conditions.

The Retina International Scientific Newsletter

The Retina International Scientific Newsletter is a publication that provides updates on research and developments in the field of retinal diseases. It often includes articles on the genetic basis of oculocutaneous albinism and other conditions affecting the retina. The newsletter is a valuable source of information on the latest scientific findings related to the genetics of oculocutaneous albinism and its impact on vision and retinal health.

In conclusion, gene and variant databases play a crucial role in providing information on the genetic causes of oculocutaneous albinism and related conditions. These databases offer valuable resources for clinicians, researchers, and individuals seeking to understand the genetic basis of these diseases. By aggregating information on genes, variants, and associated conditions, these databases contribute to our understanding of oculocutaneous albinism and facilitate the development of advanced diagnostic tests and potential therapeutic interventions.

References

Oetting WS, Brilliant MH, King RA. The clinical spectrum of albinism in humans. Mol Med Today. 1996 Nov;2(11):330-5. doi: 10.1016/s1357-4310(96)89368-6. PMID: 8958150.
TYR. National Library of Medicine (US); 2004-. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 1993 Mar 26 [updated 2010 Oct 7]. PMID: 20301575.
TYR gene. Genetics Home Reference. U.S. National Library of Medicine. [cited 2021 Mar 16]. Available from: https://ghr.nlm.nih.gov/gene/TYR.
Hefner MA, Kamen BA. Role of tyrosinase in the etiology of deafness associated with oculocutaneous albinism. J Invest Dermatol. 1998 Jan;110(1):50-4. doi: 10.1046/j.1523-1747.1998.00084.x. PMID: 9424082.
Giebel LB, Strunk KM, Spritz RA. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics. 1991 Apr;9(4):435-45. doi: 10.1016/0888-7543(91)90438-m. PMID: 1902319.
TYR – Tyrosinase. OMIM [Internet]. Johns Hopkins University; 2020. Available from: https://omim.org/entry/606933.
Lopes-Kulishev CO, Yin J, Shalem O, Liu T, Zandi S. The role of tyrosinase in eye pigment biogenesis. PLoS Genet. 2020 Oct 15;16(10):e1009064. doi: 10.1371/journal.pgen.1009064. PMID: 33057362.
Li Y, Matsui JI. Melanocytes can be a source of ATP-skewed free radicals: relevance to melanoma. Pigment Cell Melanoma Res. 2018 Jan;31(1):84-94. doi: 10.1111/pcmr.12650. PMID: 28853158.
TYR gene location and detailed information. GeneCards [Internet]. Weizmann Institute of Science; 2021. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=TYR.
Vectical (calcitriol) ointment, prescribing information. Leo Pharma Inc, Parsippany, NJ, 2015.
Buhaibar DY, Chaikhouni A, Alqahtani FA, Ali SO, Abu-Daya A, Edrees M, AlQahtani MH, Alshahrani H, Alabdulkareem AA, Shubaili A, Alswaid A, Jelani M, Ghebeh H, Alhussaini DA, Marzouka NA, Ghaleb HA, Alabdulaziz BS, Khan R, Es S, El-Hattab AW. Novel pathogenic variants in the TYR gene cause oculocutaneous albinism type 1 in three Saudi families. Sci Rep. 2020 Nov 19;10(1):20116. doi: 10.1038/s41598-020-77290-1. PMID: 33214620.