Full name: fatty acid 2-hydroxylase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: FAAH; FAH1; FAXDC1; SCS7; SPG35

Summary: 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]

Expression: Biased expression in stomach (RPKM 14.4), brain (RPKM 8.1) and 10 other tissues

Gene size: 61852bp

Exon count: 8