EXOC6
EXOC6 is a gene that encodes a component of the exocyst complex in humans. The exocyst complex is involved in the targeting and fusion of vesicles to specific sites on the plasma membrane. This gene is known to play a crucial role in vesicle-mediated cell secretion and cell growth.
Function[edit | edit source]
The EXOC6 gene is a part 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 the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this gene, 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.
Clinical Significance[edit | edit source]
Mutations in the EXOC6 gene have been associated with various diseases. For instance, it has been linked to ciliopathies, a group of genetic disorders that are characterized by abnormalities in the structure and function of cilia.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
