SNX8

Chr 7

sorting nexin 8

Also known as: Mvp1

NCBI Gene: 29886 ENSG00000106266 UniProt: Q9Y5X2

SNX8 encodes a protein that facilitates intracellular protein transport from early endosomes to the trans-Golgi network through phosphatidylinositol binding and participation in the retromer complex. Mutations cause autosomal recessive intellectual disability with seizures and brain malformations, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.57), suggesting some tolerance to protein disruption.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity and phosphatidylinositol binding activity. Involved in early endosome to Golgi transport and intracellular protein transport. Located in early endosome membrane and retromer complex. [provided by Alliance of Genome Resources, Jul 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)

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P/LP submissions

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P/LP missense

0.57

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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