TUBGCP5
Homo sapiens
Gene Name: tubulin, gamma complex associated protein 5
Aliases: GCP5
Chromosome No: 15
Chromosome Band: 15q11.2
Genetic Category: Multigenic CNV-Rare Single Gene variant
Aliases: GCP5
Chromosome No: 15
Chromosome Band: 15q11.2
Genetic Category: Multigenic CNV-Rare Single Gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 14
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 14
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare mutation in the TUBGCP5 gene has been identified in an individual with ASD (Sanders et al., 2012). In addition, a rare TUBGCP5 deletion was found in a patient with PDD-NOS and mild intellectual disability (Leblond et al., 2012).
Molecular Function
The Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.
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
Neurogenetic analysis of childhood disintegrative disorder.
Childhood disintegrative disorder
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
