This study examined this gene and the tyrosinase gene in four patients: three with type II oculocutaneous albinism, and one with a milder syndrome (autosomal recessive ocular albinism). This variant was seen compound heterozygous with a splice site mutation in the last case. It was seen heterozygously in 1 of 50 control individuals. These numbers (case+: 1, case-: 3, cont+: 1, cont-: 49) are not significant with a two-tailed Fisher’s exact test (p = 0.14).
Expression studies show that the variant reduces protein levels to 70% of wildtype.
The variant is seen in a subclinical case of oculocutaneous albinism in a Japanese individual.
This variant is shown to be rare in the Caucasian population.
This variant is shown to be common in the East Asian population.