Developmental Brain Disorder Gene Database
LoF Variant Gene
- Unique Cases:
- ID, ASD, EP, CP
- Last Updated:
- September 1, 2022
- DBD Genes Classification
- USP9X is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins (PubMed:19135894, PubMed:25944111, PubMed:18254724, PubMed:29626158). May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin (PubMed:19135894, PubMed:25944111, PubMed:18254724, PubMed:29626158). Specifically hydrolyzes 'Lys-63'-, 'Lys-48'-, 'Lys- 29'- and 'Lys-33'-linked polyubiquitins chai... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- DFFRX, FAF, MRX99
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Cerebral Palsy
|Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020|
|Sinthuwiwat T et. al., Female-restricted syndromic intellectual disability in a patient from Thailand., Am J Med Genet A, 2019|
|Reijnders MR et. al., De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations., Am J Hum Genet, 2016|
|Homan CC et. al., Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth., Am J Hum Genet, 2014|
|Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019|
|Grozeva D et. al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability., Hum Mutat, 2015|
|et. al., , ,|
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