Relevance to Autism

Li et al., 2023 determined that a de novo coding-synonymous variant in the NPTN gene originally identified in an ASD proband from the Autism Sequencing Consortium in Satterstrom et al., 2020 was a non-canonical splicing variant; subsequent functional analysis by minigene splicing assays demonstrated that this variant resulted in loss of 180 base pairs from exon 6 of this gene. De novo missense variants have also been identified in two ASD probands from the SPARK cohort (Trost et al., 2022).

Molecular Function

This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions.

External Links

References