PCSK4
The PC4 Gene: A Key Player in Cholesterol Metabolism and Beyond
Description
The PC4 gene, also known as proprotein convertase subtilisin/kexin type 4, encodes a protein that plays a crucial role in cholesterol metabolism, extracellular matrix remodeling, and hormone processing. It belongs to a family of enzymes known as proprotein convertases, which cleave proproteins into their mature, active forms.
The PC4 gene is located on chromosome 19p13.3 and spans approximately 30 kilobases. It consists of 18 exons and encodes a protein of 829 amino acids. The PC4 protein is a membrane-bound enzyme that resides in the trans-Golgi network and secretory vesicles.
Associated Diseases
Mutations in the PC4 gene have been linked to several diseases, including:
- Familial hypercholesterolemia (FH): A genetic disorder characterized by elevated blood cholesterol levels, leading to an increased risk of cardiovascular disease. Mutations in the PC4 gene can impair the processing of proprotein convertase subtilisin/kexin type 9 (PCSK9), a key regulator of cholesterol metabolism.
- Autoimmune thyroid disease: PC4 mutations have been associated with an increased risk of autoimmune thyroid diseases, including Graves' disease and Hashimoto's thyroiditis.
- Hypertension: Certain PC4 variants have been linked to an increased risk of hypertension, a major risk factor for cardiovascular disease.
- Neurodegenerative disorders: Studies have suggested that PC4 may be involved in the development and progression of neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease.
Did you Know ?
Approximately 1 in 200 people worldwide carry a mutation in the PC4 gene. This makes PC4 one of the most common genes associated with FH, accounting for about 5-10% of cases.
