COG7

COG7 is a gene that in humans is encoded by the COG7 gene. It is a component of the conserved oligomeric Golgi complex, which is involved in intracellular membrane trafficking. Mutations in this gene are associated with Congenital disorder of glycosylation type II.

Function

The COG7 gene is a component of the conserved oligomeric Golgi complex (COG), a multiprotein complex that plays a key role in the Golgi apparatus' structure and function. The COG complex is required for normal vesicular trafficking and glycosylation, essential processes in the cells.

Clinical significance

Mutations in the COG7 gene are associated with a rare congenital disorder known as Congenital disorder of glycosylation type II (CDG-II). This disorder is characterized by severe developmental delay, dysmorphic features, and life-threatening complications. The condition is caused by a deficiency in the COG7 protein, leading to abnormal glycosylation.

See also

• Conserved oligomeric Golgi complex
• Congenital disorder of glycosylation
• Golgi apparatus
• Vesicular trafficking
• Glycosylation

External links

• NCBI Gene
• Genetics Home Reference

COG7 Resources
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