Gene Symbol | SLC35A1 |
Entrez Gene ID | 10559 |
Full Name | solute carrier family 35 member A1 |
Synonyms | CDG2F,CMPST,CST,hCST |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Dec 2009]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type IIf, 603585 (3) |