GOLGA6L7P
Golga6l7p: A Protein with Intriguing Roles in Health and Disease
Description
Golga6l7p, short for Golgi apparatus protein 6-like protein 7, is a protein that plays a crucial role in the functioning of the Golgi apparatus, an organelle responsible for modifying and sorting newly synthesized proteins. Golga6l7p is specifically involved in the retrieval of proteins from the Golgi apparatus back to the endoplasmic reticulum (ER), the site of protein synthesis. This retrieval process ensures that proteins are properly folded and processed before being released into the cell.
Associated Diseases
Mutations in the GOLGA6L7P gene have been linked to several human diseases, primarily affecting the respiratory system:
- Congenital Disorders of Glycosylation (CDG) Type IIe: Characterized by defective protein glycosylation, resulting in developmental abnormalities, intellectual disability, and chronic lung disease.
- Pulmonary Alveolar Proteinosis (PAP): An excessive accumulation of surfactant proteins in the lungs, leading to shortness of breath, coughing, and impaired gas exchange.
- Interstitial Lung Disease (ILD): A group of lung disorders characterized by inflammation and scarring of the lung tissue, resulting in difficulty breathing and reduced lung function.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide are affected by CDG Type IIe, a rare genetic disorder caused by mutations in the GOLGA6L7P gene.
