Recombinant protein encompassing a sequence within the center region of human SLC17A5. The exact sequence is proprietary.
Alternative Names:
SD, AST, NSD, SLD, ISSD, SIASD, SIALIN
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.
