ADGB
Description
The ADGB gene encodes for the ADP-ribosylation factor GTPase activating protein B, a crucial enzyme involved in regulating intracellular vesicle trafficking. ADGB plays a vital role in various cellular processes, including protein sorting, membrane fusion, and signal transduction. Dysregulation of ADGB activity has been implicated in several human diseases, particularly neurodevelopmental disorders and cancer. This article delves into the structural features, functional mechanisms, and clinical relevance of the ADGB gene, highlighting its importance in maintaining cellular homeostasis and its potential as a therapeutic target.
Associated Diseases
- Neurodevelopmental Disorders (e.g., Autism Spectrum Disorder, Intellectual Disability)
- Cancer (e.g., Breast Cancer, Colorectal Cancer)
- Inflammatory Bowel Disease
- Neurodegenerative Diseases (e.g., Alzheimer‘s Disease, Parkinson‘s Disease)
Did you know?
ADGB gene mutations have been linked to a rare autosomal recessive disorder characterized by severe developmental delay, intellectual disability, and distinctive facial features.
