Aliases: C6ST, GST-2, GST2, Gn6ST-1, HEL-S-75, glcNAc6ST-1
Chromosome No: 3
Chromosome Band: 3q24
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 3
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 5
Evidence score: 2
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Relevance to Autism
De novo missense variants in the CHST2 gene have been identified in ASD probands, including a de novo missense variant (p.Arg52Pro) in a proband from the Simons Simplex Collection (Iossifov et al., 2014; Yuen et al., 2017). Functional assessment of the ASD-associated p.Arg52Pro missense variant in Drosophila using a rescue-based strategy in Macrogliese et al., 2022 demonstrated that the CHST2-p.Arg52Pro mutation resulted in a reduced ability to rescue TG4 lethality in humanized flies compared with reference animals, consistent with a loss-of-function effect.
Molecular Function
This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen.
External Links
