GDP-fucose transporter 1

GDP-fucose transporter 1 (GFT1) is a protein that in humans is encoded by the SLC35C1 gene. This protein is a member of the solute carrier family and is involved in the transport of GDP-fucose across the Golgi apparatus membrane.

Function

GDP-fucose transporter 1 is responsible for the transport of GDP-fucose, a monosaccharide donor required for fucosylation, from the cytoplasm into the Golgi apparatus, where fucosylation reactions occur. Fucosylation is a type of glycosylation that is involved in many biological processes, including cell adhesion, immune response, and development.

Clinical significance

Mutations in the SLC35C1 gene can lead to a condition known as congenital disorder of glycosylation type IIc (CDG-IIc), also known as Leukocyte adhesion deficiency type II (LAD II). This is a rare autosomal recessive disorder characterized by growth retardation, intellectual disability, and severe infection due to defects in fucosylation.

See also

• Solute carrier family
• Golgi apparatus
• Fucosylation
• Congenital disorder of glycosylation
• Leukocyte adhesion deficiency

References

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