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GENATLAS PHENOTYPE

last update : 25-05-2010

Symbol	OCA2
Location	15q13.1
Name	oculocutaneous albinism, type 2
Corresponding gene	OCA2
related resource	AlbinismDatabase
Other symbol(s)	BOCA
Main clinical features	tyrosinase positive, most common form of OCA worldwide, especially frequent among southern African Blacks also including a milder hypopigmentation phenotype known as the brown oculocutaneous albinism (BOCA) fair skin, some brown nevi present in the sun-exposed areas and green or blue eyes associated to red hair in any cases (when associated mutation of MC1R )
Genetic determination	autosomal recessive
Function/system disorder	eye
	dermatology
Type	disease

Gene product

Name	pink-eyed dilution homolog (PEDH),~75 pcen of deletions in black OCA2 patients

Remark(s)