Aliases: ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
Chromosome No: 6
Chromosome Band: 6q23.2
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 2
Evidence score: 3
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Relevance to Autism
Rare de novo non-coding variants in the ENPP1 gene have been identified in ASD probands in multiple studies (Yuen et al., 2017; Turner et al., 2017; Werling et al., 2018), while a de novo in-frame deletion variant in this gene was identified in a male ASD proband from a cohort of 100 Vietnamese children with ASD (Tran et al., 2020).
Molecular Function
This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates.
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