Aliases: GAKIN
Chromosome No: 8
Chromosome Band: 8p12
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 11
Evidence score: 2
| Associated Disorders: |
|
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; this finding was further validated by exome sequencing of an independent cohort of 505 ASD cases and 491 controls (Li et al., 2014).
Molecular Function
The protein encoded by this gene is involved in reorganization of the cortical cytoskeleton and regulates axon formation by promoting the formation of extra axons. It may also be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes.
External Links
