FA2H

Fatty acid 2-hydroxylase is a is_associated_with::protein that in humans is encoded by the FA2H is_associated_with::gene.

Function
This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of is_associated_with::sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic is_associated_with::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 is_associated_with::leukodystrophy dysmyelinating with spastic paraparesis with or without is_associated_with::dystonia as well as fatty acid hydroxylase-associated neurodegeneration.