SLC35A5 Gene: Function, Expression, and Clinical Significance

SLC35A5 encodes a member of the solute carrier family 35 (SLC35), which are nucleotide sugar transporters localized to the Golgi apparatus and endoplasmic reticulum. These transporters are essential for glycosylation processes by importing nucleotide sugars into the lumen of these organelles. SLC35A5 is predicted to be a multi-pass membrane protein with 10 transmembrane domains. It is widely expressed in various tissues, with higher expression in the thyroid, adrenal gland, and salivary gland. The protein may play a role in the transport of UDP-glucuronic acid and other nucleotide sugars, contributing to the synthesis of glycosaminoglycans and glycoproteins. Mutations in SLC35A5 have been associated with intellectual disability and other neurodevelopmental disorders, suggesting its importance in normal development.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Nucleotide sugar transport

• Glycosylation

The SLC35A5 protein is a putative nucleotide sugar transporter with 10 transmembrane domains. It is localized to the Golgi apparatus and is involved in the transport of nucleotide sugars, such as UDP-glucuronic acid, into the Golgi lumen for glycosylation reactions. The protein is widely expressed, with high levels in thyroid, adrenal, and salivary glands. Mutations in SLC35A5 are associated with neurodevelopmental disorders, indicating its critical role in brain development.