For example, functional mutations in the gene encoding TYR (TYR, 11q14-21, MIM 606933) would inactivate TYR and cause a deficiency in melanin, thereby resulting in oculocutaneous albinism type 1 (OCA1, MIM 203100), an autosomal recessive disorder characterized by the absence of pigment in hair, skin, and eyes [14]. The gene discussed is TYR; the disease is oculocutaneous albinism type 1.