Aliases: CTC75, CTCBF, G22P1, KU70, ML8, TLAA
Chromosome No: 22
Chromosome Band: 22q13.2
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
A de novo splice-site variant in the XRCC6 gene was identified in a female ASD proband from a simplex family (Sjaarda et al., 2020); the authors of this report noted that there were 55 CNVs reported in the DECIPHER database that affect XRCC6 (28 of these individuals presented intellectual disability and five presented autism or autistic behavior). Additional rare de novo non-coding variants in this gene were identified in ASD probands from the Simons Simplex Collection in Turner et al., 2017.
Molecular Function
The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination.
External Links
