Description
Product Characteristics: SLC17A5, solute carrier family 17 (anion/sugar transporter), member 5, AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, membrane glycoprotein HP59, sialic acid storage disease, sialin, sodium/sialic acid cotransporter, solute carrier family 17 member 5, solute carrier family 17, member 5
Target Information: 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]