ARHGAP24
Homo sapiens
Gene Name: Rho GTPase activating protein 24
Aliases: FILGAP, RC-GAP72, RCGAP72, p73, p73RhoGAP
Chromosome No: 4
Chromosome Band: 4q21.23-q21.3
Genetic Category: Rare single gene variant
Aliases: FILGAP, RC-GAP72, RCGAP72, p73, p73RhoGAP
Chromosome No: 4
Chromosome Band: 4q21.23-q21.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 8
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo 1 Mb deletion involving the ARHGAP24 gene was detected in a female ASD patient (Wisniowiecka-Kowalnik et al., 2012). This deletion was not found in the Database of Genomic Variants (DGV) or in a group of 2026 healthy individuals.
Molecular Function
Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
ASD
DD/ID