Solute carrier family 35 member A1 (SLC35A1)

Solute carrier family 35 member A1 (SLC35A1) is a nucleotide sugar transporter protein localized in the membrane of the Golgi apparatus. It plays an essential role in glycosylation by importing cytidine monophosphate (CMP)-sialic acid from the cytosol into the Golgi lumen, where sialyltransferases use it to cap glycoproteins, glycolipids, and proteoglycans with sialic acid residues. This process is critical for cell–cell interactions, signaling, and the stability of cell surfaces. Loss-of-function mutations in SLC35A1 cause congenital disorders of glycosylation (CDG), with multisystemic presentation including hematological abnormalities (notably, thrombocytopenia), neurological defects, and immune impairment due to abnormal sialylation. SLC35A1-deficient systems are utilized in research to study glycosylation's role and as tools to modify viral surface properties for gene therapy. The transporter operates with substrate specificity governed by defined binding pockets in its transmembrane domain and is correctly targeted to the Golgi apparatus via C-terminal sorting signals. Alternative splicing creates isoforms with distinct capacities to maintain cellular sialylation, offering potential for future therapeutic strategy development

Other names

CMP-sialic acid transporterCSTCMP-SA-TrCMPSThCSTmutated CMP-sialic acid transporter A1solute carrier family 35 (CMP-sialic acid transporter), member 1solute carrier family 35 (UDP-galactose transporter), member 1CDG2F

Not applicable (no drugs identified to target SLC35A1 directly). For related CDG cases, potential mechanisms would be correction of glycosylation defects (as proposed in gene therapy/genetic complementation approaches)