ACSF2
Description
The ACSF2 gene encodes a protein called acyl-CoA synthetase family member 2. This protein plays a pivotal role in the metabolism of fatty acids, crucial for proper brain development and function. ACSF2 is involved in the synthesis of fatty acid-derived signaling molecules, like prostaglandins and leukotrienes, which regulate various cellular processes in the brain. Mutations in this gene can disrupt these processes, leading to a range of neurodevelopmental disorders.
Associated Diseases
Did you know?
ACSF2 gene mutations are more commonly observed in individuals with microcephaly, a condition characterized by a smaller than normal head size, indicating its crucial role in brain growth.