MGP Database

MGP003891

UniProt Annotations

Entry Information
Gene Namefatty acid desaturase 2
Protein EntryFADS2_HUMAN
UniProt IDO95864
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=O95864-1; Sequence=Displayed; Name=2; IsoId=O95864-2; Sequence=VSP_028568; Name=3; IsoId=O95864-3; Sequence=VSP_028569; Note=No experimental confirmation available.; Name=4; IsoId=O95864-4; Sequence=VSP_054809;
Developmental StageFound in fetal heart.
DomainThe histidine box domains may contain the active site and/or be involved in metal ion binding.
FunctionComponent of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma- linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum. {ECO:0000269|PubMed:12713571, ECO:0000269|PubMed:9867867}.
InductionRepressed by dietary highly unsaturated fatty acids. {ECO:0000269|PubMed:12147235, ECO:0000269|PubMed:12562861}.
PathwayLipid metabolism; polyunsaturated fatty acid biosynthesis.
SimilarityBelongs to the fatty acid desaturase family. {ECO:0000305}.
SimilarityContains 1 cytochrome b5 heme-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00279}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue SpecificityExpressed 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. {ECO:0000269|PubMed:10860662, ECO:0000269|PubMed:12851727, ECO:0000269|PubMed:9867867}.
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