EXOC8 Chromosome 1
Exocyst complex component 8
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What This Gene Does
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]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Exocyst complex"
Locus Type
gene with protein product
Location
1q42.2
Ensembl
ENSG00000116903
Associated Conditions (3)
Neurodevelopmental disorder with microcephaly
seizures
and brain atrophy
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1686661157 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy |