USP30
Homo sapiens
Gene Name: ubiquitin specific peptidase 30
Aliases:
Chromosome No: 12
Chromosome Band: 12q24.11
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
Aliases:
Chromosome No: 12
Chromosome Band: 12q24.11
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 4
Evidence score: 2
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo missense variant in the USP30 gene (p.Pro200Ser) was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while inherited loss-of-function variants in this gene have been identified in unrelated ASD probands from the iHART cohort (Ruzzo et al., 2019). Functional assessment of the ASD-associated p.Pro200Ser missense variant using an rescue-based strategy in Macrogliese et al., 2020 demonstrated that humanized flies carrying the p.Pro200Ser mutation showed decreased grooming behavior compared to the humanized reference in a behavioral paradigm.
Molecular Function
USP30, a member of the ubiquitin-specific protease family, is a novel mitochondrial deubiquitinating (DUB) enzyme.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
ASD
