Aliases:
Chromosome No: X
Chromosome Band: Xp22.2
Genetic Category: Genetic association/Rare single gene variant
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 12
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
An X-chromosome-wide association (XWAS) study of 6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females) in Mendes et al., 2024 identified two SNPs in the ASB9 gene that reached the significance threshold for association (P < 7.9E-06) in a sex-stratified male-XWAS analysis. Furthermore, rare predicted damaging SNVs (<0.1% frequency in gnomAD) in the ASB9 gene were found to have a higher frequency in male ASD cases from MSSNG, SSC, and SPARK compared to other family members.
Molecular Function
This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases.
External Links
