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.
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Protein Aliases: AST; FLJ22227; FLJ23268; H(+)/nitrate cotransporter; H(+)/sialic acid cotransporter; hp59; Membrane glycoprotein HP59; proton-coupled sialic acid transporter; sialic acid storage disease; Sialin; sodium/sialic acid cotransporter; solute carrier family 17 (acidic sugar transporter), member 5; solute carrier family 17 (anion/sugar transporter), member 5; Solute carrier family 17 member 5; Vesicular H(+)/Aspartate-glutamate cotransporter
Gene Aliases: 4631416G20Rik; 4732491M05; AST; ISSD; NSD; SD; SIALIN; SIASD; SLC17A5; SLD