ARHGAP11B
Homo sapiens
Gene Name: Rho GTPase activating protein 11B
Aliases: B'-T, FAM7B1, GAP (1-8)
Chromosome No: 15
Chromosome Band: 15q13.2
Genetic Category: Rare Single Gene variant-
Aliases: B'-T, FAM7B1, GAP (1-8)
Chromosome No: 15
Chromosome Band: 15q13.2
Genetic Category: Rare Single Gene variant-
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 12
Evidence score: null
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 12
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Rare ARHGAP11B deletions were found in two patients with autism and intellectual disability (Leblond et al., 2012).
Molecular Function
This protein activates Rho-like small GTPases. Small GTPases cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when GDP-bound. The Rho family of GTPases activates effectors involved in a wide variety of developmental processes, including regulation of cytoskeleton formation, cell proliferation and the JNK signaling pathway.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
ASD
ID
Support
Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis.
Support
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.
SCZ
