Aliases: Iporin, MRT61
Chromosome No: 9
Chromosome Band: 9p13.3
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 5
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 8
Evidence score: 3
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Relevance to Autism
RUSC2 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to eight ASD probands in six independent families. Homozygous mutations in the RUSC2 gene are associated with a form of autosomal recessive intellectual disability (MRT61, OMIM 617773); autistic features were reported in one of the three affected individuals reported in Alwadei et al., 2016. De novo missense variants in this gene have also been identified in two ASD probands (De Rubeis et al., 2014; Yuen et al., 2017).
Molecular Function
This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130.
External Links
