SYAP1
Homo sapiens
Gene Name: Synapse associated protein 1
Aliases: PRO3113
Chromosome No: X
Chromosome Band: Xp22.2
Genetic Category: Rare single gene variant
Aliases: PRO3113
Chromosome No: X
Chromosome Band: Xp22.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 11
Evidence score: null
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 11
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
A novel recurrent duplication involving the SYAP1 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
Molecular Function
SYAP1 is the human homolog of the SAP47 gene in Drosophila. Lack of SAP47 in Drosophila results in impaired short-term synaptic and behavioral plasticity (Saumweber et al., 2011).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Behavioral and synaptic plasticity are impaired upon lack of the synaptic protein SAP47.
