Screening of 9q33.1 copy number variants disrupting ASTN2 or both ASTN2 and TRIM32 in clinical microarray data from 89,986 individuals across 10 sites, including 64,114 subjects with neurodevelopmental disorders (NDD), in Lionel et al., 2014 found that deletions affecting both ASTN2 and TRIM32 were statistically enriched in NDD cases compared to controls (23 deletions in 64,114 cases vs. 6 in 44,085 controls; P-value 0.019); this enrichment was subsequently determined to be male-specific [22 deletions in 40,438 NDD males vs. 2 deletions in 14,953 male controls (P-value 0.024) compared to 1 deletion in 23.676 NDD females vs. 3 deletions in 18.218 female controls (P-value 0.964)]. Zhu et al., 2019 found that absence of TRIM32 resulted in impaired generation of GABAergic interneurons and autism-like behaviors in mice via suppressed mTOR signaling.
Molecular Function
The protein encoded by this gene is a member of the tripartite motif (TRIM) family and has an E3 ubiquitin ligase activity. The protein localizes to cytoplasmic bodies and has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Absence of TRIM32 Leads to Reduced GABAergic Interneuron Generation and Autism-like Behaviors in Mice via Suppressing mTOR Signaling.
