SLC35B1

SLC35B1 encodes the Solute Carrier Family 35 Member B1 protein, also known as UDP-sugar transporter 1. This protein acts as a key transporter in the endoplasmic reticulum and Golgi apparatus, facilitating the import of nucleotide sugars for glycosylation. It is involved in the N-glycosylation pathway, which is crucial for protein folding and function.
Mutations in SLC35B1 are associated with congenital disorders of glycosylation, leading to various clinical manifestations such as developmental delays and dysmorphic features. Currently, research on drugs targeting SLC35B1 is in the pre - clinical stage, aiming to correct glycosylation defects and improve patient conditions.