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- W2116784275 abstract "The ocular albinism type 1 (OA1) gene product is a membrane glycoprotein that may play a role in controlling melanosome growth and maturation. A number of mutations in the OA1 gene lead to ocular albinism due at least in part to retention of the aberrant protein in the endoplasmic reticulum. To examine whether N-glycosylation plays a role in the post-translational trafficking of the Oa1 protein, we constructed a series of mutant mouse Oa1 cDNAs encoding an Oa1-green fluorescent protein fusion in which some or all of the potential glycosylation sites were eliminated by site-directed mutagenesis. Biochemical studies in transfected cells treated with tunicamycin and peptide:N-glycosidase F suggest that asparagine at amino acid 106 is essential for N-glycosylation of the protein. Mutation at amino acid 106 that eliminated glycosylation did not affect the endo/lysosomal distribution of the Oa1 protein in either COS cells or cultured murine melanocytes." @default.
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- W2116784275 date "2001-12-01" @default.
- W2116784275 modified "2023-09-23" @default.
- W2116784275 title "The Ocular Albinism Type 1 Gene Product is an N-Glycoprotein but Glycosylation is not Required for its Subcellular Distribution" @default.
- W2116784275 doi "https://doi.org/10.1034/j.1600-0749.2001.140609.x" @default.
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