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SLC45A2 encodes a putative transporter in pigment cells and is mutated in oculocutaneous albinism (OCA) type 4. We show that SLC45A2 on mature melanosomes supports melanin synthesis by maintaining lumenal neutralization-initially orchestrated by transient OCA2 activity-and that a common variant imparts reduced activity due to protein instability.

SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation