FAM91A1

Chr 8

family with sequence similarity 91 member A1

The protein functions as a component of the WDR11 complex that facilitates golgin-mediated capture of AP-1 generated vesicles at the trans-Golgi network. This gene is highly constrained against loss-of-function variants (LOEUF 0.488), suggesting mutations would likely cause severe disease, though no specific clinical phenotypes have been established in humans yet.

ResearchSummary from RefSeq, UniProt

As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1

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

0.49

LOEUF

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Mechanism

Some data sources returned errors (2)

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