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NCBI Description of SLC17A5 |
This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. |
Community Annotation of SLC17A5 Add / Edit SLC17A5: Annotations
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Figure notes
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Data details