This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.,FA2H,FAAH,FAH1,FAXDC1,SCS7,SPG35,Signal Transduction,Endocrine & Metabolism,Lipid Metabolism,Neuroscience,Cell Type Marker,Neuron marker,Axon marker,FA2H