Variants
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TYR Gene

tyrosinase

ALIAS SYMBOLS

  • OCAIA

  • OCA1A

  • OCA1

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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 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.

CHROMOSOME

11


LOCATION

q14.3


LOCUS TYPE

gene with protein product

VARIANTS

285

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:12442

  • NCBI

    7299

  • OMIM

    606933

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