DEGS2
| Delta(4)-desaturase, sphingolipid 2 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | DEGS2 ; C14orf66; DES2; FADS8 | ||||||||||||
| External IDs | OMIM: 610862 HomoloGene: 23617 IUPHAR: 2485 GeneCards: DEGS2 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 123099 | 70059 | |||||||||||
| Ensembl | ENSG00000168350 | ENSMUSG00000021263 | |||||||||||
| UniProt | Q6QHC5 | Q8R2F2 | |||||||||||
| RefSeq (mRNA) | NM_206918 | NM_001171002 | |||||||||||
| RefSeq (protein) | NP_996801 | NP_001164473 | |||||||||||
| Location (UCSC) | Chr 14: 100.14 – 100.16 Mb | Chr 12: 108.69 – 108.7 Mb | |||||||||||
| PubMed search | |||||||||||||
Delta(4)-desaturase, sphingolipid 2 is a protein that in humans is encoded by the DEGS2 gene.[1]
Function
This gene encodes a bifunctional enzyme that is involved in the biosynthesis of sphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase.
References
Further reading
- Devlin CM, Lahm T, Hubbard WC, Van Demark M, Wang KC, Wu X et al. (Nov 2011). "Dihydroceramide-based response to hypoxia". The Journal of Biological Chemistry 286 (44): 38069–38078. doi:10.1074/jbc.M111.297994. PMC 3207482. PMID 21914808.
- Aouizerat BE, Vittinghoff E, Musone SL, Pawlikowska L, Kwok PY, Olgin JE et al. (2011). "GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease". BMC Cardiovascular Disorders 11: 29. doi:10.1186/1471-2261-11-29. PMC 3141757. PMID 21658281.
- Mizutani Y, Kihara A, Igarashi Y (Apr 2004). "Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation". FEBS Letters 563 (1-3): 93–97. doi:10.1016/S0014-5793(04)00274-1. PMID 15063729.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.