Tyrosinase



Keywords: gdb:120476,7299,7299,tyr,tyr gene,gene tyr,melanosome,oca1,tyrosinase-negative,oculocutaneous albinism,lb24-ab,monophenol monooxygenase,oca1a,ocaia,sk29-ab,tumor rejection antigen ab,tyro,national library of medicine,nlm,national institutes of health,nih,health problem,health problems,disease,diseases,human genetics,gene,genes,genetic disease,genetic conditions,genetic disorders,medical genetics,genetics education,genetics glossary,gene reference,genetics reference,human genetic health,genomic medicine,molecular medicine,genetic testing,genomic medicine,gene therapy,pharmacogenomics,genetic counseling,counseling,gene testing,genome,hereditary family history,future of medicine,disease and gene association,congenital,heritable disorders,inherited disorders,heritable diseases,inherited diseases,family disorders,family diseases,inborn disorders,inborn diseases,birth defects
Description: 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

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 than 100 mutations in the TYR gene have been identified in people with oculocutaneous albinism type 1. These mutations disrupt the normal production of melanin, which reduces coloring of the hair, skin, and eyes and causes problems with vision. Most TYR mutations eliminate the activity of tyrosinase, preventing melanocytes from producing any melanin throughout life. These mutations cause a form of oculocutaneous albinism called type 1A (OCA1A). People with this form of albinism have white hair, light-colored eyes, and very pale skin that does not tan. Other mutations in the TYR gene reduce but do not eliminate tyrosinase activity. These mutations, which allow some melanin to be produced, cause oculocutaneous albinism type 1B (OCA1B). People with type 1B are also born with white hair, light-colored eyes, and pale skin, but hair and eye color often darken over time and skin may tan.






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