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last update : 07-10-2015
Symbol OCA3
Location 9p23
Name oculocutaneous albinism, type 3
Other name(s) albinism III
Corresponding gene TYRP1
related resource AlbinismDatabase
Other symbol(s) ROCA
Main clinical features
  • reduced biosynthesis of melanin pigment in the hair, skin, and eyes
  • 'rufous oculocutaneous albinism (ROCA)' when it was found in southern African blacks; in blacks the disorder is characterized by bright copper-red coloration of the skin and hair and dilution of the color of the iris
  • Genetic determination autosomal recessive
    Related entries . including rufous oculocutaneous albinism (ROCA,OMIM 278400) in Southern African blacks
    Function/system disorder eye
    Type disease
    Gene product
    Name 5,6-dihydroindole-2-carboxylic acid oxidase (TYRP1)
  • mutations reduce the ability of TYRP1 to regulate expression of other genes that participate in pigmentation metabolism (PMID: 21976956))