Aliases:
Chromosome No: 13
Chromosome Band: 13q31.3
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 9
Recent Reports: 1
Annotated variants: 31
Associated CNVs: 23
Evidence score: 4
| Associated Disorders: |
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Relevance to Autism
De novo variants in the GPC gene have been identified in ASD probands, including de novo missense variants in probands from the Simons Simplex Collection and the Autism Sequencing Consortium (Kong et al., 2012; De Rubeis et al., 2014; Iossifov et al., 2014; Yuen et al., 216; Yuen et al., 2017; Turner et al., 2017). Functional assessment of the ASD-associated p.Met133Thr missense variant, which was originally identified in a proband from the Simons Simplex Collection, in Drosophila using an overexpression-based strategy in Macrogliese et al., 2022 demonstrated that flies overexpressing GPC5-p.Met133Thr exhibited increased lethality when compared with reference protein, indicating a gain-of-function effect.
Molecular Function
Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation.
External Links
