Description
Product Characteristics: SLC17A5 is a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in SLC17A5 gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form.
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]