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  • Human PIKFYVE wild-type allele is located in the vicinity of 2q34 and is approximately 93 kb in length. This allele, which encodes 1-phosphatidylinositol 3-phosphate 5-kinase protein, is involved in the phosphorylation of phosphatidylinositol and the metabolism of phosphatidylinositol 3,5-bisphosphate. Mutations in the gene cause corneal fleck dystrophy.
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