Eddie Lee

What is the potential functional impact of a missense variant of uncertain significance (VUS) to the human SLC35A3 gene associated with autism spectrum disorder?

Started May 28, 2026

Abstract or project description

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects communication, social interaction, and behavior. According to recent estimates, ASD affects approximately 1 in 127 people worldwide, highlighting the need for continued research to better understand its underlying genetic causes. One gene of interest is SLC35A3 (Solute Carrier Family 35 Member A3), which encodes a protein responsible for transporting nucleotide sugars into the Golgi apparatus, where they are used in glycosylation processes that are essential for normal cellular function. Emerging evidence suggests that missense mutations in SLC35A3 may contribute to the development of ASD by disrupting these biological processes. This project will investigate the potential relationship between SLC35A3 mutations and ASD by examining current scientific literature and genomic databases, including the National Center for Biotechnology Information (NCBI), Ensembl, ClinVar, and the UCSC Genome Browser. Through this investigation, the project aims to evaluate the current evidence supporting SLC35A3 as an ASD-associated gene, identify gaps in the existing research, and improve our understanding of how genetic variation in SLC35A3 may contribute to the development of ASD.