ACSS1
ACSS1: A Comprehensive Guide
Introduction:
ACSS1, also known as acyl-CoA synthetase short-chain family member 1, is a vital enzyme that plays a critical role in cellular metabolism. This blog post delves into the essential aspects of ACSS1, including its description, associated diseases, intriguing statistics, references, and the latest research findings.
Description:
ACSS1 is an enzyme that catalyzes the conversion of short-chain fatty acids into their coenzyme A derivatives. This process is crucial for energy production and cellular function. ACSS1 is primarily located in the mitochondrial matrix and is encoded by the ACSM5 gene.
Associated Diseases:
Defects in ACSS1 have been linked to several metabolic disorders:
- Progressive familial intrahepatic cholestasis type 3 (PFIC3): A rare genetic liver disease characterized by severe cholestasis and liver failure.
- Short-chain acyl-CoA dehydrogenase deficiency (SCAD): A mitochondrial disorder that affects the breakdown of short-chain fatty acids, leading to encephalopathic crises and cardiomyopathy.
- Propionic acidemia: A metabolic disorder caused by an inability to break down propionic acid, resulting in developmental delays, cardiomyopathy, and neurological abnormalities.
Did you Know ?
- ACSS1 deficiency is estimated to affect approximately 1 in 50,000 newborns worldwide.
