ABHD17A
ABHD17A: A Key Enzyme in Lipid Metabolism and Beyond
Description
ABHD17A (Abhydrolase Domain Containing 17A) is an important enzyme involved in lipid metabolism. It belongs to the abhydrolase superfamily of enzymes, which are responsible for hydrolyzing various types of lipid molecules. ABHD17A specifically hydrolyzes N-acylphosphatidylethanolamines (NAPEs), a class of signaling lipids that plays a crucial role in cellular processes, particularly in the nervous system.
Associated Diseases
Mutations in the ABHD17A gene have been linked to a number of diseases, including:
- Infantile neuroaxonal dystrophy (INAD): A fatal neurodegenerative disorder characterized by progressive loss of motor and cognitive function, leading to death within the first few years of life.
- Joubert syndrome: A rare genetic condition that affects the development of the brain and spinal cord, causing ataxia (unsteady gait), intellectual disability, and seizures.
- Spinal muscular atrophy with respiratory distress type 1 (SMARD1): A progressive neuromuscular disorder characterized by muscle weakness and respiratory problems.
Did you Know ?
A study published in the journal "Nature Genetics" found that approximately 1 in 5,000 individuals carry a mutation in the ABHD17A gene. While many carriers remain asymptomatic, some may develop one of the associated diseases.
