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SLC17A5

Official Full Name
solute carrier family 17 member 5
Organism
Homo sapiens
GeneID
26503
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. [provided by RefSeq, Jul 2008]
Synonyms
SD; AST; NSD; SLD; ISSD; VEAT; SIASD; SIALIN;

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