FA2H

Function

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.

Clinical significance

Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia as well as fatty acid hydroxylase-associated neurodegeneration.