Functions of OA1
Though the exact role of OA1 is yet to be confirmed, many studies give clues about the probable roles of OA1. The Oa1 gene product might be involved in vesicular trafficking or sorting them to the melanosomes. It is also believed to be involved in redistribution of mannose-6-phosphate receptors, thus suggesting that it is important for melanogensis. Literature shows that it plays a major role in the final stages of growth and maturation of melanosomes. This conclusion is based on the fact that there are no intermediates of melanosome-melanosome fusion and the number of melanosomes decreases only on maturation of the cell and not in the initial stages of development. A number of genes in Drosophila, like the hook gene that alter ocular pigment granules have been shown to affect lysosomal delivery. Moreover, it has been found that in normal conditions, melanosomal proteins traffic normally to late endosomes, while in the absence of OA1, they continue to accumulate in the mature melanosomes. This may mean that OA1 acts as a stop signal for melanosomal growth.
Read more about this topic: Ocular Albinism Type 1
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