ARFGEF2 : ADP ribosylation factor guanine nucleotide exchange factor 2

Title: ARFGEF2: The Orchestrator of Intracellular Traffic

Description:

The ARFGEF2 gene plays a crucial role in the intricate network of cellular operations. It encodes a protein that serves as a master regulator of intracellular trafficking, ensuring the seamless movement of vesicles – small sac-like structures – within the cell. This protein performs the remarkable feat of converting a molecule called guanine diphosphate (GDP) into guanine triphosphate (GTP), thereby activating ADP-ribosylation factor (ARF), a molecule essential for vesicle trafficking.

Associated Diseases:

When mutations occur in the ARFGEF2 gene, it can lead to a rare genetic disorder called Bardet-Biedl syndrome (BBS). BBS is characterized by a combination of symptoms that include:

• Obesity
• Polydactyly (extra fingers or toes)
• Intellectual disability
• Retinal degeneration
• Kidney cysts

Did you Know ?

ARFGEF2 is present in virtually all cells in the human body, highlighting its fundamental importance in cellular function.