background:
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, SLCterminal 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.
Function:
FADS2 (Fatty acid desaturase 2) catalyses the biosynthesis of highly unsaturated fatty acids from precursor essential polyunsaturated fatty acids (linoleic and alpha-linoleic acid). FADS family members comprise an N-terminal cytochrome b5-like domain and a SLCterminal membrane-spanning desaturase. FADS2 is repressed by dietary highly unsaturated fatty acids. Altered expression of FADS2 may be associated with obesity-associated insulin resistance. Genetic studies have linked FADS2 to IQ and attention-deficit/hyperactivity disorder (ADHD).
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein
Tissue Specificity:
Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index.
Similarity:
Belongs to the fatty acid desaturase family.
Contains 1 cytochrome b5 heme-binding domain.
Database links:
Entrez Gene: 9415 Human
Entrez Gene: 56473 Mouse
Entrez Gene: 83512 Rat
Omim: 606149 Human
SwissProt: Q4R749 Cynomolgus monkey
SwissProt: O95864 Human
SwissProt: Q9Z0R9 Mouse
SwissProt: Q5REA7 Orangutan
SwissProt: Q9Z122 Rat
Unigene: 502745 Human
Unigene: 38901 Mouse
Unigene: 162483 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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