VPS26B

Chr 11

VPS26 retromer complex component B

Also known as: Pep8b

NCBI Gene: 112936 ENSG00000151502 UniProt: Q4G0F5 OMIM: 610027

VPS26B encodes a component of the retromer cargo-selective complex that prevents missorting of transmembrane cargo proteins into the lysosomal degradation pathway and mediates retrograde transport from endosomes to the trans-Golgi network and plasma membrane recycling. This highly constrained gene (pLI=0.97, LOEUF=0.32) has not yet been definitively associated with human disease, though its critical role in endosomal trafficking suggests mutations would likely cause developmental abnormalities. The inheritance pattern for VPS26B-related disorders has not been established.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in intracellular protein transport and retrograde transport, endosome to Golgi. Predicted to act upstream of or within cellular response to type II interferon. Predicted to be located in early endosome and late endosome. Predicted to be part of retromer, cargo-selective complex. Predicted to be active in endosome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted