Relevance to Autism

Transmission And De Novo Association (TADA) analysis of whole-genome sequencing data from a cohort of 4,551 individuals in 1,004 multiplex families having two or more autistic children identified VPS54 as a novel ASD risk gene with a false discovery rate (FDR) less than 0.1. Additional de novo variants in this gene, including a missense variant and a splice-region variant, have been identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014; Satterstrom et al., 2020).

Molecular Function

This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs.

External Links

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