![]() Gene nameĪssociated with melanin producing cells. A 2010 study on eye color variation into hue and saturation values using high-resolution digital full-eye photographs found three new loci for a total of ten genes, and now about 50% of eye colour variation can be explained. ![]() Other genes implicated in eye color variation are SLC24A4 and TYR. A specific mutation within the HERC2 gene, a gene that regulates OCA2 expression, is partly responsible for blue eyes. The polymorphisms may be in an OCA2regulatory sequence, where they may influence the expression of the gene product, which in turn affects pigmentation. (The name of the gene is derived from the disorder it causes, oculocutaneous albinism type II.) Different SNPs within OCA2 are strongly associated with blue and green eyes as well as variations in freckling, mole counts, hair and skin tone. ![]() The gene OCA2 (OMIM: 203200), when in a variant form, causes the pink eye color and hypopigmentation common in human albinism.
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