SLC35C1

SLC35C1 is a gene that in humans is encoded by the SLC35C1 protein. It is a member of the solute carrier family 35 and is involved in the transport of nucleotide sugars from the cytosol into the Golgi apparatus.

Function

The protein encoded by the SLC35C1 gene is a nucleotide sugar transporter which transports UDP-galactose and UDP-N-acetylglucosamine from the cytoplasm to the Golgi apparatus. This transportation is crucial for the glycosylation of proteins and lipids.

Clinical significance

Mutations in the SLC35C1 gene are associated with a type of Congenital Disorders of Glycosylation (CDG), specifically CDG type IIc (also known as Leukocyte Adhesion Deficiency II or LAD II). This disorder is characterized by growth retardation, intellectual disability, and a distinctive facial appearance. It is a rare autosomal recessive disorder.

See also

• Solute carrier family
• Congenital Disorders of Glycosylation
• Leukocyte Adhesion Deficiency II

External links

• NCBI Gene
• Genetics Home Reference

SLC35C1 Resources
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