EXOC4 Chromosome 7
Exocyst complex component 4
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What This Gene Does
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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Exocyst complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
7q33
Ensembl
ENSG00000131558
Associated Conditions (1)
Meckel-Gruber syndrome
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS730882233 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Meckel-Gruber syndrome |