FA2H gene

The FA2H gene provides instructions for making the enzyme fatty acid 2-hydroxylase, which is critical for the formation of normal myelin in the nervous system.

Normal Function

The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme modifies fatty acids, which are building blocks used to make fats (lipids). Specifically, it adds a single oxygen atom to a hydrogen atom on a fatty acid to create a 2-hydroxylated fatty acid. These specific fatty acids are important in forming normal myelin, the protective covering that insulates nerves and ensures the rapid transmission of nerve impulses in the brain and spinal cord.

Health Conditions Related to Genetic Changes

Fatty acid hydroxylase-associated neurodegeneration

At least nine mutations in the FA2H gene have been identified in people with fatty acid hydroxylase-associated neurodegeneration (FAHN). This is a progressive nervous system disorder characterized by movement and vision problems that begin in childhood or adolescence and worsen over time. Brain scans of affected individuals often show abnormal iron accumulation in regions involved in movement.

Mutations in the FA2H gene reduce or eliminate the function of the fatty acid 2-hydroxylase enzyme. This reduction may result in abnormal myelin that is prone to deterioration (demyelination), leading to a loss of white matter known as leukodystrophy. While iron accumulation is also involved in the disease process, the exact mechanism by which these mutations lead to iron buildup remains unclear.

Other Names for This Gene

• FA2H_HUMAN
• FAAH
• FAH1
• fatty acid alpha-hydroxylase
• fatty acid hydroxylase domain containing 1
• FAXDC1
• FLJ25287
• SCS7
• spastic paraplegia 35 (autosomal recessive)
• SPG35