Aliases: HSSOX6, SOXD
Chromosome No: 11
Chromosome Band: 11p15.2
Genetic Category: Syndromic-Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 19
Associated CNVs: 3
Evidence score: 2
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Relevance to Autism
Tolchin et al., 2020 characterized 19 individuals from 17 unrelated families presenting with a neurodevelopmental syndrome; behavioral abnormalities were frequently observed in affected individuals, with 10/19 presenting with ADHD and 4/19 with autism spectrum disorder.
Molecular Function
This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression.
External Links
