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.[provided by RefSeq, Mar 2010].
Eckhardt, Yaghootfam, Fewou, Zöller, Gieselmann: "A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin." in: The Biochemical journal, Vol. 388, Issue Pt 1, pp. 245-54, (2005) (PubMed).
Alderson, Walla, Hama: "A novel method for the measurement of in vitro fatty acid 2-hydroxylase activity by gas chromatography-mass spectrometry." in: Journal of lipid research, Vol. 46, Issue 7, pp. 1569-75, (2005) (PubMed).
Alderson, Rembiesa, Walla, Bielawska, Bielawski, Hama: "The human FA2H gene encodes a fatty acid 2-hydroxylase." in: The Journal of biological chemistry, Vol. 279, Issue 47, pp. 48562-8, (2004) (PubMed).