| Gene Symbol |
FADS2
|
| Entrez Gene |
9415
|
| Alt Symbol |
D6D, DES6, FADSD6, LLCDL2, SLL0262, TU13
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
fatty acid desaturase 2
|
| Other Description |
delta(6) desaturase|delta(6) fatty acid desaturase|delta-6 desaturase|delta-6 fatty acid desaturase|delta-6-desaturase|linoleoyl-CoA desaturase (delta-6-desaturase)-like 2
|
| Swissprots |
A8K2M6 Q9H3G3 O95864 B7Z634 Q6MZQ7 Q96SV8 Q96H07 Q9Y3X4
|
| Accessions |
CAF86135 EAW73974 EAW73975 O95864 AA665550 AF084559 AAG23121 AF108658 AAG43192 AF126799 AAD20018 AK027459 BAG51327 AK027513 BAB55167 AK027577 BAG51351 AK074925 BAG52031 AK074939 BAC11305 AK074991 AK123240 BAG53882 AK290291 BAF82980 AK299762 BAH13120 AL050118 CAB43280 BC009011 AAH09011 DA233832 HY090295 XM_011545395 XP_011543697 NM_001281501 NP_001268430 NM_001281502 NP_001268431 NM_004265 NP_004256
|
| 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}.
|
| 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}.
|
| Top Pathways |
PPAR signaling pathway, alpha-Linolenic acid metabolism, Biosynthesis of unsaturated fatty acids, Fatty acid metabolism
|