Exocyst complex component 6b

Exocyst complex component 6b (EXOC6B) is a protein that in humans is encoded by the EXOC6B gene. 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.

Function

The EXOC6B protein is a part of the octameric exocyst complex, which plays a crucial role in the vesicle trafficking process. The exocyst complex is involved in the final stages of exocytosis, which is the process by which cells transport and release molecules. Specifically, the exocyst complex is believed to serve as a tethering complex, holding vesicles at the plasma membrane before the final fusion event that releases the vesicle contents.

Clinical significance

Mutations in the EXOC6B gene have been associated with a rare genetic disorder known as Mental retardation, autosomal recessive 39 (MRT39). This condition is characterized by severe intellectual disability, hypotonia, early-onset complex partial seizures, and minor abnormalities of the hands and feet.

See also

• Exocyst
• Vesicle trafficking
• Exocytosis

External links

• NCBI Gene
• UniProt