Entrez gene ID | | 10559 |
Official gene symbol | | SLC35A1 |
Full name | | solute carrier family 35 (CMP-sialic acid transporter), member A1 |
Aliases | | ,CDG2F,CMPST,CST,FLJ76955,hCST, |
Gene summary | | 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. |
Location | | Chromosome: 6 Locus: 6q15 |
Gene position | | 88182643 - 88222057 Map Viewer |
Gene orientation | | plus |
Gene size | | 39415 bp |
Gene sequence |
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OMIM ID | | 605634 |