Developmental Brain Disorder Gene Database
- Unique Cases:
- ID, ASD, EP, ADHD
- Last Updated:
- September 1, 2022
- Gene Function
- Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:8643598, PubMed:22155786, PubMed:27418539). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786). Plays a key role in the regulation of neurite outgrowth and lamellipodia formation (PubMed:32109419). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder
|Barbosa S et. al., Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders., Am J Hum Genet, 2020|
|Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020|
|Boonsawat P et. al., Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly., Genet Med, 2019|
|Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019|
|Aspromonte MC et. al., Characterization of intellectual disability and autism comorbidity through gene panel sequencing., Hum Mutat, 2019|
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