SLC35A2 (UDP-galactose translocator) variants and mutations

SLC35A2 (also known as UDP-galactose translocator) is a human protein-coding gene encoding an UDP-galactose translocator protein. It supplies UDP-galactose to the Golgi lumen for glycosylation of proteins and lipids. Germline loss-of-function variants cause a congenital disorder of glycosylation, while somatic mosaic brain variants are associated with cortical malformations and epilepsy. This analysis covers 670 SLC35A2 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes SLC35A2-congenital disorder of glycosylation, Intellectual disability, and hereditary disease. Example SLC35A2 variants include M1I, M1K, and M1L.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SLC35A2 variants

Examples include M1I, M1K, M1L, M1V, A2T, A3E, A3V, V4I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.