GDE1

Chr 16

glycerophosphodiester phosphodiesterase 1

Also known as: 363E6.2, MIR16

NCBI Gene: 51573 ENSG00000006007 UniProt: Q9NZC3

This glycerophosphodiester phosphodiesterase hydrolyzes glycerophosphodiesters and participates in bioactive N-acylethanolamine biosynthesis including anandamide, with the gene showing low constraint to loss-of-function variants (pLI near 0). Biallelic pathogenic variants cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically with childhood onset. The condition primarily affects the central nervous system with progressive spasticity and developmental delays.

ResearchSummary from RefSeq, UniProt

Predicted to enable glycerophosphodiester phosphodiesterase activity; glycerophosphoinositol glycerophosphodiesterase activity; and phosphatidylcholine lysophospholipase A1 activity. Predicted to be involved in N-acylethanolamine metabolic process; ethanolamine metabolic process; and phospholipid metabolic process. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.17

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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