SLC35C1 is associated with autosomal recessive SLC35C1-congenital disorder of glycosylation (CDG-IIc) (MedGen UID 162913).
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Invitae tests that include this gene:
SLC35C1-CDG (CDG-IIc) is a rare cause of congenital disorders of glycosylation, and the percentage of cases attributed to pathogenic variants in SLC35C1 is unknown.
The SLC35C1 gene encodes the GDP-fucose transporter, which is essential to transport fucose to the golgi lumen. Once in the golgi lumen fucosyltransferases can attach fucose to glycoconjugates. One important fucosylated glycan, sialyl-Lewis X is needed for the granulocyte migration (PMID: 24403049).
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|