Aliases: CCNG
Chromosome No: 5
Chromosome Band: 5q34
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 6
Evidence score: 0
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Relevance to Autism
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the CCNG1 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 3 CNVs from SCZ cases (6 total) vs. 1 CNV in controls (Odds ratio 2.75, P = 3.2E-02)].
Molecular Function
The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and may play a role in growth regulation. Its associated with G2/M phase arrest in response to DNA damage and may be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation.
External Links
