SLC45A2 and oculocutaneous albinism: Biallelic rare variants in proteins critical for the production of melanin (e.g., TYR) or in pH regulation of the melanosome (e.g., OCA2 and SLC45A2) lead to a significant reduction in melanin pigmentation in the skin, eyes, and hair and give rise to oculocutaneous albinism (OCA) (OCA1, OCA2, and OCA4, respectively).