ABHD17B
ABHD17B: Unveiling the Role of an Enigmatic Enzyme in Disease
Description
Abhydrolase domain containing 17B (ABHD17B) is an enzyme that hydrolyzes various fatty acid esters, phospholipids, and monoacylglycerols. It is primarily expressed in the liver, but also in other tissues such as the brain, heart, and adipose tissue. ABHD17B plays a crucial role in various physiological processes, including lipid metabolism, energy homeostasis, and inflammation.
Associated Diseases
Dysregulation of ABHD17B has been implicated in the pathogenesis of several diseases, including:
- Obesity and Metabolic Syndrome: ABHD17B deficiency has been linked to increased body weight, insulin resistance, and dyslipidemia.
- Liver Disease: Mutations in ABHD17B have been associated with non-alcoholic fatty liver disease (NAFLD) and liver fibrosis.
- Neurodegenerative Disorders: ABHD17B has been implicated in Alzheimer's disease and Parkinson's disease.
- Cardiovascular Disease: ABHD17B deficiency has been linked to increased susceptibility to heart failure and arrhythmias.
- Inflammatory Diseases: ABHD17B plays a role in regulating inflammatory responses, and its dysregulation has been observed in conditions such as sepsis and arthritis.
Did you Know ?
A recent study found that individuals with a specific ABHD17B gene variant had a 25% higher risk of developing obesity. This highlights the potential of ABHD17B as a genetic predictor of metabolic disease.
