Background information
Members of the fatty acid desaturase (FADS) family, including FADS1, FADS2 and FADS3, regulate the desaturation of fatty acids by introducing double bonds between defined carbons of fatty acyl chains, thereby playing an essential role in the lipid metabolic pathway. Members of this family share N-terminal cytochrome b5-like domains, C-terminal multiple membrane-spanning desaturase regions and 3 histidine box motifs. FADS2 (fatty acid desaturase 2), also known as D6D, DES6, LLCDL2 or TU13, is a 444 amino acid multi-pass membrane protein that localizes to the endoplasmic reticulum and contains one cytochrome b5 heme-binding domain. Expressed in adult and fetal heart and in adult liver, brain, lung and retina, FADS2 functions as a component of a lipid metabolic pathway and catalyzes the first step in the pathway, namely the formation of unsaturated fatty acids from polyunsaturated fatty acids. Defects in the gene encoding FADS2 are the cause of cause of fatty acid delta-6-desaturase deficiency, an affliction that is characterized by skin abnormalities, corneal ulceration and growth failure. Multiple isoforms of FADS2 exist due to alternative splicing events.
