NXPH1

Chr 7

neurexophilin 1

Also known as: NPH1, Nbla00697

NCBI Gene: 30010 ENSG00000122584 UniProt: P58417

The protein is a secreted signaling molecule that forms tight complexes with alpha-neurexins to promote adhesion between dendrites and axons. Mutations cause autosomal recessive neurodevelopmental disorders including developmental and epileptic encephalopathy and intellectual disability with autism spectrum features. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008]

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)

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P/LP submissions

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P/LP missense

0.62

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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