FAM3D
FAM3D: A Key Modulator of Metabolism and Disease
Description:
FAM3D (family with sequence similarity 3D) is a protein encoded by the FAM3D gene located on chromosome 10p15.1. It belongs to the FAM3 family of proteins, characterized by their conserved amino acid sequence and involvement in cellular metabolism. FAM3D is primarily expressed in the liver and plays a crucial role in regulating glucose and lipid homeostasis.
Associated Diseases:
Mutations in the FAM3D gene have been linked to several inherited metabolic disorders, including:
- Hypercholesterolemia: Elevated levels of cholesterol in the blood
- Hypertriglyceridemia: High levels of triglycerides (a type of fat) in the blood
- Type 2 Diabetes: A chronic disease characterized by high blood sugar levels
Did you Know ?
Studies have shown that individuals with certain FAM3D gene variants have a significantly increased risk of developing hypercholesterolemia. In a large-scale analysis, individuals with the FAM3D p.R114W variant were found to have a 3-fold higher likelihood of having high cholesterol levels.
