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SLC35A1 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.
Gene Name: | solute carrier family 35 (CMP-sialic acid transporter), member A1 |
Family/Subfamily: | Transporter , Drug/metabolite transporter |
Synonyms: | SLC35A1, CDG2F, CST, CMP-SA-Tr, CMP-Sia-Tr, CMP-sialic acid transporter, CMPST |
Target Sequences: | NM_006416 NP_006407.1 P78382 |
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