Aliases: AC-III, AC3
Chromosome No: 2
Chromosome Band: 2p23.3
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 3
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Three de novo missense variants in the ADCY3 gene were identified in ASD probands from the Autism Sequencing Consortium in De Rubeis et al., 2014. A fourth de novo missense variant in this gene was identified by whole genome sequencing in an ASD proband as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of four de novo missense variants in ASD cases, a z-score > 2.0 for missense mutations, and a higher-than expected mutation rate (a false discovery rate < 15%), ADCY3 was determined to be an ASD candidate gene in Yuen et al., 2017.
Molecular Function
This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP).
External Links
