Aliases: PTC4, RET/PCM-1
Chromosome No: 8
Chromosome Band: 8p22
Genetic Category: Rare single gene variant
ASD Reports: 6
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 15
Evidence score: 2
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Relevance to Autism
A de novo missense variant that was predicted to be damaging was identified in the PCM1 gene in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while transmitted protein-truncating variants (PTVs) in this gene were observed in ASD probands from the Autism Sequencing Consortium and the iHART cohort (De Rubeis et al., 2014; Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified PCM1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Molecular Function
The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome.
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