GNB3
GNB3: A Key Regulator of Cellular Function
Description:
GNB3, also known as G protein subunit beta-3, is a protein that plays a crucial role in cellular signaling. It is part of the G protein complex, which transmits signals from receptors on the cell surface to enzymes within the cell. GNB3 specifically interacts with the Gα subunit, which activates the downstream signaling cascade.
Associated Diseases:
Mutations in GNB3 have been linked to several diseases, including:
- Alström Syndrome: A rare genetic disorder characterized by obesity, insulin resistance, blindness, and hearing loss.
- Obstructive Hypertrophic Cardiomyopathy (HCM): A type of heart disease where the heart muscle thickens and becomes enlarged, obstructing blood flow.
- Congenital Cataracts: A condition where the lens of the eye becomes clouded, leading to impaired vision.
- Type 2 Diabetes: A metabolic disorder characterized by elevated blood sugar levels due to insulin resistance.
- GERD, Gastroesophageal Reflux Disease
Did you Know ?
Studies have shown that individuals with mutations in GNB3 have an increased risk of developing obstructive HCM. It is estimated that mutations in GNB3 account for approximately 1-2% of all cases of HCM.
