The human HERC2 gene locus is upstream of that of the OCA2 gene (mutated in oculocutaneous albinism) and certain HERC2 SNPs can interfere OCA2’s expression thus affecting eye, skin, and hair pigmentation (Eiberg et al., 2008; Kayser et al., 2008; Sturm et al., 2008; Branicki et al., 2009; Nan et al., 2009). The gene discussed is OCA2; the disease is oculocutaneous albinism.