Full Name: Solute Carrier Family 17 Member 5
BACKGROUND: 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.
Synonyms: AST; ISSD; NSD; SD; SIALIN; SIASD; SLD
Research Areas: Metabolism
Pathways: Metabolism Pathway
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