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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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; VEAT; Vesicular excitatory amino acid transporter; vesicular H(+)/Aspartate-glutamate cotransporter
基因别名: 4631416G20Rik; 4732491M05; AST; ISSD; NSD; SD; SIALIN; SIASD; SLC17A5; SLD
UniProt ID: (Human) Q9NRA2, (Mouse) Q8BN82, (Rat) Q5Q0U0
Entrez Gene ID: (Human) 26503, (Mouse) 235504, (Rat) 363103