COG8

Ideogram human chromosome 16

COG8

COG8 is a gene that encodes a protein involved in cellular processes. It is located on chromosome 16 in humans. The COG8 protein is a subunit of the conserved oligomeric Golgi (COG) complex, which plays a crucial role in intracellular trafficking and glycosylation processes within the Golgi apparatus.

Function

The COG8 protein is essential for maintaining the structure and function of the Golgi apparatus. It is involved in the retrograde transport of proteins between Golgi cisternae and the endoplasmic reticulum. Additionally, COG8 is required for proper glycosylation of proteins, which is crucial for their correct folding and function.

Clinical Significance

Mutations in the COG8 gene can lead to defects in protein trafficking and glycosylation, resulting in various genetic disorders known as congenital disorders of glycosylation (CDG). These disorders can manifest as developmental delays, intellectual disabilities, and other systemic symptoms.

Research

Research on COG8 and the COG complex is ongoing to further understand their roles in cellular processes and disease pathogenesis. Studies aim to elucidate the molecular mechanisms underlying COG8 function and its implications for human health.

See Also

• Golgi Apparatus
• Endoplasmic Reticulum
• Congenital Disorders of Glycosylation