Aliases for SLC35A1 Gene
External Ids for SLC35A1 Gene
The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
GeneCards Summary for SLC35A1 Gene
SLC35A1 (Solute Carrier Family 35 (CMP-Sialic Acid Transporter), Member A1) is a Protein Coding gene. Diseases associated with SLC35A1 include congenital disorder of glycosylation, type iif and sialuria. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include sugar:proton symporter activity and CMP-N-acetylneuraminate transmembrane transporter activity. An important paralog of this gene is SLC35A5.
UniProtKB/Swiss-Prot for SLC35A1 Gene
Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function