PRUNE1

Chr 1AR

prune exopolyphosphatase 1

Also known as: DRES-17, DRES17, H-PRUNE, HTCD37, NMIHBA, PRUNE

NCBI Gene: 58497 ENSG00000143363 UniProt: Q86TP1 OMIM: 617413

The protein functions as a phosphodiesterase with higher activity toward cAMP than cGMP and regulates neurogenesis and microtubule polymerization. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.661), consistent with its role in early neurodevelopment.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesMIM #617481

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.66

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PRUNE1