Background：

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.