ART1
Description
The ART1 gene, also known as the "Arf1 guanine nucleotide exchange factor 1" gene, plays a critical role in regulating cell division and DNA repair processes. It encodes a protein that acts as a guanine nucleotide exchange factor (GEF), specifically for the small GTPase Arf1. This GEF activity is crucial for the proper functioning of various cellular pathways, including vesicle trafficking, membrane remodeling, and signal transduction. When ART1 is mutated or dysfunctional, it can lead to a range of cellular abnormalities and disease.
Associated Diseases
- Cancer (particularly breast, lung, and colorectal cancers)
- Neurodevelopmental disorders
- Immunodeficiency disorders
- Cardiovascular diseases
Did you know?
ART1 gene expression is tightly regulated during different stages of cell development and is often dysregulated in cancer cells.
