SNX25

Chr 4

sorting nexin 25

Also known as: LRP2BP-AS1, MSTP043, SBBI31

NCBI Gene: 83891 ENSG00000109762 UniProt: Q9H3E2

SNX25 encodes a protein that binds phosphatidylinositol and regulates intracellular trafficking, particularly through negative regulation of TGF-beta receptor signaling and receptor degradation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures and developmental delays. The gene is highly constrained against loss-of-function variants (LOEUF 0.518), reflecting its critical role in cellular function.

ResearchSummary from RefSeq, UniProt

Predicted to enable phosphatidylinositol binding activity and type I transforming growth factor beta receptor binding activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway and receptor catabolic process. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.52

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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