| Gene Symbol |
DEGS2
|
| Entrez Gene |
123099
|
| Alt Symbol |
C14orf66, DES2, FADS8
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
delta(4)-desaturase, sphingolipid 2
|
| Other Description |
degenerative spermatocyte homolog 2, lipid desaturase|dihydroceramide desaturase 2|sphingolipid C4-hydroxylase/delta 4-desaturase|sphingolipid delta 4 desaturase/C-4 hydroxylase|sphingolipid delta(4)-desaturase 2|sphingolipid delta(4)-desaturase/C4-hydroxylase DES2
|
| Swissprots |
Q6P492 Q6QHC5
|
| Accessions |
EAW81688 Q6QHC5 AI380009 AY541700 AAS68362 BC063598 AAH63598 BM789564 XM_006720043 XP_006720106 NM_206918 NP_996801
|
| Function |
Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase. {ECO:0000250|UniProtKB:Q8R2F2}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8R2F2}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8R2F2}.
|
| Tissue Specificity |
Highly expressed in skin, intestine and kidney. {ECO:0000269|PubMed:15063729}.
|
| Top Pathways |
Sphingolipid signaling pathway, Sphingolipid metabolism
|