ABHD6
ABHD6: A Protein with Diverse Roles in Health and Disease
Description
ABHD6 (Abhydrolase Domain Containing 6) is a protein that plays a crucial role in regulating lipid metabolism and signaling pathways. It belongs to the family of alpha/beta hydrolases and exhibits enzymatic activity towards specific lipid substrates. ABHD6 is primarily localized in the endoplasmic reticulum (ER) and lipid droplets, where it participates in lipid hydrolysis and the generation of signaling lipids.
Associated Diseases
Mutations in the ABHD6 gene have been linked to several human diseases, including:
- Neutral Lipid Storage Disease with Myopathy (NLSDM): A rare genetic disorder characterized by accumulation of neutral lipids (e.g., triglycerides) in skeletal muscle, leading to muscle weakness and exercise intolerance.
- Chanarin-Dorfman Syndrome (CDS): A rare genetic disorder affecting lipid metabolism, resulting in accumulation of cholesterol esters in macrophages and foam cell formation.
- Hypertriglyceridemia: Elevated levels of triglycerides in the blood, a risk factor for cardiovascular disease.
- Obesity and Metabolic Syndrome: ABHD6 dysfunction has been implicated in the development of obesity and related metabolic complications.
Did you Know ?
Research indicates that approximately 1 in 40,000 individuals worldwide may carry a mutation in the ABHD6 gene, making it a relatively common genetic disorder.
