FA2H : fatty acid 2-hydroxylase
Description
The FA2H (fatty acid 2-hydroxylase) is a protein-coding gene located on chromosome 16.
The FA2H gene provides instructions for producing an enzyme called fatty acid 2-hydroxylase. This enzyme modifies fatty acids, the building blocks of fats (lipids), by adding a single oxygen atom to a hydrogen atom at a specific point on the fatty acid. This creates a 2-hydroxylated fatty acid, which is essential for the formation of myelin. Myelin is the protective covering that insulates nerves, ensuring rapid nerve impulse transmission. White matter, the part of the brain and spinal cord containing myelin, relies on these 2-hydroxylated fatty acids.
The FA2H enzyme catalyzes the addition of an oxygen atom to free fatty acids at the C-2 position, producing 2-hydroxy fatty acids. These 2-hydroxy fatty acids are essential building blocks for sphingolipids and glycosphingolipids, which are crucial components of neural tissue and epidermis. Notably, FA2H is stereospecific, exclusively producing (R)-2-hydroxy fatty acids. This enzyme plays a vital role in the synthesis of galactosphingolipids, a key component of the myelin sheath that insulates nerve fibers. Additionally, FA2H is responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies, which are essential for maintaining the skin's permeability barrier. FA2H also participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters in the sebaceous gland, contributing to the regulation of hair follicle homeostasis. Furthermore, FA2H is involved in the synthesis of sphingolipids within plasma membrane rafts, influencing their mobility and the trafficking of associated proteins.
FA2H is also known as FAAH, FAH1, FAXDC1, SCS7, SPG35.
Associated Diseases
- Fatty acid hydroxylase-associated neurodegeneration
- Autosomal recessive spastic paraplegia type 35
- Spastic paraplegia 35, autosomal recessive
