Aliases: C10orf60, POST, TMEM20
Chromosome No: 10
Chromosome Band: 10q23.33
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
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Relevance to Autism
SLC35G1 was identified in an ASD candidate gene in Wang et al., 2023 based on reaching a false discovery rate (FDR) threshold of <0.1 following TADA analysis in both a discovery cohort of 1,141 Chinese ASD probands and a combined cohort consisting of the discovery cohort of Chinese ASD probands and 42,607 ASD probands originally published in Zhou et al., 2022. Wang et al., 2023 also demonstrated that mice harboring a heterozygous deletion of Slc35g1 exhibited defects in interactive social behaviors and increased marble-burying activity compared to wild-type mice. In total, four de novo coding variants in SLC35G1 (two loss-of-function variants and two missense variants) have been reported in ASD probands (Yuen et al., 2017; Zhou et al., 2022; Wang et al., 2023).
Molecular Function
This gene encodes a transmembrane protein which is a member of the drug/metabolite transporter protein superfamily. The encoded protein may play a role in the regulation of calcium levels inside the cell.
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