Aliases: PBP, PC1, Pc-1, TRPP1
Chromosome No: 16
Chromosome Band: 16p13.3
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 10
Recent Reports: 0
Annotated variants: 33
Associated CNVs: 5
Evidence score: null
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Relevance to Autism
A de novo missense variant with a CADD score > 25 was identified in the PKD1 gene in a Korean ASD proband in Kim et al., 2024; this gene was subsequently classified as an ASD candidate gene in males following a combined TADA analysis consisting of the Korean ASD cohort described in Kim et al., 2024 in addition to the Simons Simplex Collection and the SPARK cohort. A number of de novo variants in this gene were previously reported in ASD probands from the Autism Sequencing Consortium, the Simons Simplex Collection, the SPARK cohort, and the MSSNG cohort, including two de novo loss-of-function variants and two de novo missense variants with CADD scores > 25 that were identified in SPARK probands (De Rubeis et al., 2014; Iossifov et al., 2014; Yuen et al., 2017; Feliciano et al., 2019; Satterstrom et al., 2020; Zhou et al., 2022; Fu et al., 2022; Trost et al., 2022).
Molecular Function
This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure.
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