TYR Gene
tyrosinase
ALIAS SYMBOLS
OCAIA
OCA1A
OCA1
Your Results
Sign InDescription
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
External Links
HGNC
Ensembl
NCBI
OMIM