SLC35A1 solute carrier family 35 member A1 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 10559)
Source: NCBI Gene (ID 10559)
Symbol: SLC35A1
Full name: solute carrier family 35 member A1
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: CDG2F; CMPST; CST; hCST
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]
Expression: Ubiquitous expression in colon (RPKM 23.8), lung (RPKM 21.7) and 25 other tissues
Orthologs: mouse
Gene size: 39363bp
Exon count: 8