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- W4308294602 abstract "Mutations in C10orf11 (oculocutaneous albinism type 7 [OCA7]) cause OCA, a disorder that presents with hypopigmentation in skin, eyes, and hair. The OCA7 pathophysiology is unknown, and there is virtually no information on the OCA7 protein and its cellular function. Here, we discover that OCA7 localizes to the limiting membrane of melanosomes, the specialized pigment cell organelles where melanin is synthesized. We demonstrate that OCA7 is recruited through interaction with a canonical effector-binding surface of melanosome proteins Rab32 and Rab38. Using newly generated OCA7-KO MNT1 cells, we show OCA7 regulates overall melanin levels in a melanocyte autonomous manner by controlling melanosome maturation. Importantly, we found that OCA7 regulates premelanosome protein (PMEL) processing, impacting fibrillation and the striations that define transition from melanosome stage I to stage II. Furthermore, the melanosome lumen of OCA7-KO cells displays lower pH than control cells. Together, our results reveal that OCA7 regulates pigmentation through two well-established determinants of melanosome biogenesis and function, PMEL processing, and organelle pH." @default.
- W4308294602 created "2022-11-10" @default.
- W4308294602 creator A5015576759 @default.
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- W4308294602 date "2022-12-01" @default.
- W4308294602 modified "2023-10-15" @default.
- W4308294602 title "OCA7 is a melanosome membrane protein that defines pigmentation by regulating early stages of melanosome biogenesis" @default.
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- W4308294602 doi "https://doi.org/10.1016/j.jbc.2022.102669" @default.
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