Relevance to Autism

A de novo nonsense variant in the SLC7A7 gene was detected in an ASD proband from the Simons Simplex Collection in O'Roak et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 detected one rare inherited loss-of-function variant and one rare inherited damaging missense variant in Chinese ASD probands. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of Chinese ASD cases and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified SLC7A7 as an ASD candidate gene with a PTADA of 0.005861. Zhang et al., 2026 identified a variant located in the super-enhancer regulating the SLC7A7 gene (rs1951568 G>A) that demonstrated a significant association with reduced ASD risk in both a Chinese case-control study [p=0.017, odds ratio 0.783 (95% CI 0.604-0.957)] and in a European population using the iPSYCH-PGC dataset [p=0.012, odds ratio 0.963 (95% CI 0.935-0.992); functional characterization of this variant in dual-luciferase reporter assays in SH-SY5Y and HEK293T cells found that the rs1951568 A allele significantly increased luciferase activity compared to the G allele (p<0.001 in both cell types).

Molecular Function

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI).

External Links

References