SLC17A5

SLC17A5, a member of the solute carrier family 17, is a transmembrane protein characterized by multiple transmembrane domains. These domains enable SLC17A5 to form channels or transporters on the cell membrane, regulating the transport of specific substances between the intracellular and extracellular environments. The protein encoded by the SLC17A5 gene is known as Sialin, which plays a pivotal role in the transport and regulation of solutes in the nervous system and muscles. At the cell membrane, Sialin is responsible for the transport of sialic acid, a substance that performs crucial functions in the nervous system. By regulating the transport of sialic acid, Sialin influences the normal function and signal transduction of nerve cells. The signaling pathways involving SLC17A5 are primarily linked to the functions of the nervous system and muscles. When mutations occur in SLC17A5, the function of Sialin protein is compromised, leading to abnormalities in the transport and regulation of sialic acid within cells. This dysregulation disrupts the normal signal transduction of nerve cells, triggering a range of neurological and muscular disease manifestations.

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Recombinant Human Sialin (SLC17A5), partial