GDPD3

Chr 16

glycerophosphodiester phosphodiesterase domain containing 3

Also known as: GDE7

NCBI Gene: 79153 ENSG00000102886 UniProt: Q7L5L3 OMIM: 616318

The GDPD3 protein hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid and corresponding amines, with preference for substrates including lyso-PAF and lysophosphatidylcholine. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and progressive microcephaly. This gene shows extremely high constraint against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Enables phosphoric diester hydrolase activity. Involved in N-acylethanolamine metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.51

LOEUF

Mechanism· predicted