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GENATLAS PHENOTYPE

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
	dermatology
Type	disease

Gene product

Name	5,6-dihydroindole-2-carboxylic acid oxidase (TYRP1)

Remark(s)

mutations reduce the ability of TYRP1 to regulate expression of other genes that participate in pigmentation metabolism (PMID: 21976956))