Aliases: FBX23, FBXO23, TM4SF17
Chromosome No: 5
Chromosome Band: 5q35.2
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 6
Evidence score: 2
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Relevance to Autism
A de novo nonsense variant in the TSPAN17 gene was identified in an ASD proband from the Simons Simplex Collection in O'Roak et al., 2012. Rare inherited loss-of-function and damaging missense variants in this gene were observed in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in a cohort of Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified TSPAN17 as an ASD candidate gene with a PTADA of 0.001596.
Molecular Function
This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. Regulates ADAM10 maturation.
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