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TYR
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs61753256 | |||
| rs765024056 | |||
| rs1042602 | |||
| rs145513733 | |||
| rs150788061 | |||
| rs199500520 | |||
| rs34878847 | |||
| rs61753180 | |||
| rs61754365 | |||
| rs63159160 | |||
| rs900091147 | |||
| rs180801021 | |||
| rs61754388 | |||
| rs104894313 | |||
| rs1126809 | |||
| rs1284322336 | |||
| rs138750983 | |||
| rs372665540 | |||
| rs376823382 | |||
| rs748956628 |
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Summary
The TYR gene encodes an enzyme called tyrosinase, and is located in cells that produce melanin. Melanin gives skin, hair, and eyes their color and is also found in the light-sensitive tissue at the back of the eye. Variants of TYR may play a role in melanoma by augmenting the production of tyrosinase and promoting the development of melanin, a double-edged pigment (R).
Lifestyle, diet, and supplement modifications may counteract the effects of these variants by balancing tyrosinase production.
Protein names
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GHR Function
The TYR gene provides instructions for making an enzyme called tyrosinase. This enzyme is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Tyrosinase is responsible for the first step in melanin production. It converts a protein building block (amino acid) called tyrosine to another compound called dopaquinone. A series of additional chemical reactions convert dopaquinone to melanin in the skin, hair follicles, the colored part of the eye (the iris), and the retina.
More Information
The TYR gene codes for tyrosinase, an enzyme that helps produce melanin and other pigments in cells called melanocytes [R, R].
The amount of melanin produced by melanocytes is the main determinant of an individual’s skin color, with more melanin (i.e., greater tyrosinase activity) leading to darker skin. Higher levels of melanin may also help protect melanocytes against UV-mediated DNA damage [R, R].
In a type of skin cancer termed melanoma, melanocytes divide uncontrollably in response to DNA damage. As a result, immune cells generate antibodies that target tyrosinase and other parts of these cells. The self-targeting antibodies (autoantibodies) generated are likely to result in immune attacks that destroy both normal and abnormal melanocytes, leading to areas of skin that lack pigmentation [R].
DNA damage protection in combination with the destruction of melanocytes suggests that augmenting tyrosinase production may be beneficial; however, tumor clearance mediated by autoantibodies is rare [R, R].
In addition, excessive tyrosinase activity and melanin production may lower the efficacy of radiotherapy and chemotherapy, due to the ability of melanin to absorb radiation and remove reactive oxygen species. Melanin production also generates immunosuppressive byproducts that may hinder immunotherapy. Ultimately, high tyrosinase activity may promote disease progression [R].
Multiple studies have reported increased levels of tyrosinase in melanoma patients and unsurprisingly, variants of TYR have been associated with this disease. These variants likely boost tyrosinase, thereby hindering therapies and promoting melanoma progression [R, R, R, R, R, R, R].
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