EXOC8

Chr 1AR

exocyst complex component 8

Also known as: EXO84, Exo84p, NEDMISB, SEC84

NCBI Gene: 149371 ENSG00000116903 UniProt: Q8IYI6 OMIM: 615283

The protein is a component of the exocyst complex that docks exocytic vesicles to the plasma membrane for secretion. Mutations cause a neurodevelopmental disorder with microcephaly, seizures, and brain atrophy, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants, indicating intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophyMIM #619076

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

0.19

LOEUF· LoF intol.

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Mechanism