Aliases: SLC23A2, SVCT1, YSPL3
Chromosome No: 5
Chromosome Band: 5q31.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 5
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 6
Evidence score: 2
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Relevance to Autism
De novo variants in the SLC23A1 gene have been identified in ASD probands, including a de novo missense variant (p.Leu465Met) in a proband from the Simons Simplex Collection (Iossifov et al., 2014; Sanders et al., 2015; Yuen et al., 2017). Functional assessment of the ASD-associated p.Leu465Met missense variant in Drosophila using an overexpression-based strategy in Macrogliese et al., 2022 demonstrated that flies overexpressing SLC23A1-p.Leu465Met exhibited increased lethality when compared with reference protein, indicating a gain-of-function effect.
Molecular Function
The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces.
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