CAMSAP2
Homo sapiens
Gene Name: calmodulin regulated spectrin-associated protein family, member 2
Aliases: RP11-93N17.1, CAMSAP1L1
Chromosome No: 1
Chromosome Band: 1q32.1
Genetic Category: Rare Single Gene variant
Aliases: RP11-93N17.1, CAMSAP1L1
Chromosome No: 1
Chromosome Band: 1q32.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 3
Evidence score: 0
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 3
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
A rare CAMSAP2 duplication was found in a patient with autism and moderate intellectual disability (Leblond et al., 2012).
Molecular Function
This protein contains a microtubule-binding CKK domain as well as a calponin homology (CH) actin-binding domain.
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