EXOC3

Chr 5

exocyst complex component 3

Also known as: SEC6, SEC6L1, Sec6p

NCBI Gene: 11336 ENSG00000180104 UniProt: O60645 OMIM: 608186

EXOC3 encodes a component of the exocyst complex that docks exocytic vesicles with fusion sites on the plasma membrane and is essential for epithelial cell surface polarity. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene is highly constrained against loss-of-function variants, reflecting its essential cellular role.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.35

Clinical Summary— EXOC3

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.92). One damaged copy is likely sufficient to cause disease.

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