EXOC3
Homo sapiens
Gene Name: exocyst complex component 3
Aliases: SEC6, SEC6L1, Sec6p
Chromosome No: 5
Chromosome Band: 5p15.33
Genetic Category: Rare single gene variant
Aliases: SEC6, SEC6L1, Sec6p
Chromosome No: 5
Chromosome Band: 5p15.33
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 10
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
