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MGP003891

UniProt Annotations

Entry Information

Gene Name	fatty acid desaturase 2
Protein Entry	FADS2_HUMAN
UniProt ID	O95864
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Stage	Found in fetal heart.
Domain	The histidine box domains may contain the active site and/or be involved in metal ion binding.
Function	Component 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}.
Induction	Repressed by dietary highly unsaturated fatty acids. {ECO:0000269\|PubMed:12147235, ECO:0000269\|PubMed:12562861}.
Pathway	Lipid metabolism; polyunsaturated fatty acid biosynthesis.
Similarity	Belongs to the fatty acid desaturase family. {ECO:0000305}.
Similarity	Contains 1 cytochrome b5 heme-binding domain. {ECO:0000255\|PROSITE-ProRule:PRU00279}.
Subcellular Location	Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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. {ECO:0000269\|PubMed:10860662, ECO:0000269\|PubMed:12851727, ECO:0000269\|PubMed:9867867}.