Fatty acid 2-hydroxylase (FA2H)

Fatty acid 2-hydroxylase (FA2H) is an enzyme encoded by the FA2H gene, which catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, crucial for the synthesis of 2-hydroxysphingolipids[1][6]. These lipids are essential components of myelin in the central nervous system and the epidermal barrier in skin[1][2][4][6]. FA2H contains a cytochrome b5 domain and multiple transmembrane regions typical for membrane-bound desaturases and hydroxylases[1]. Loss-of-function mutations in FA2H cause neurodegenerative diseases such as fatty acid hydroxylase-associated neurodegeneration (FAHN), hereditary spastic paraplegia 35 (SPG35), and leukodystrophy, primarily manifesting as white matter deterioration and abnormal iron accumulation in the brain[2][3][4]. FA2H plays roles in neural, skin, and hair follicle physiology, and has no currently established direct small-molecule inhibitors or approved drugs targeting it clinically[6].

Other names

Fatty acid alpha-hydroxylaseFatty acid hydroxylase domain-containing protein 1FAH1FAAHFAXDC1FLJ25287SCS7SPG35Spastic paraplegia 35 (autosomal recessive)