DEGS2

Delta(4)-desaturase, sphingolipid 2
Identifiers
Symbols	DEGS2 ; C14orf66; DES2; FADS8
External IDs	OMIM: 610862 HomoloGene: 23617 IUPHAR: 2485 GeneCards: DEGS2 Gene
Gene ontology Molecular function • sphingosine hydroxylase activity • sphingolipid delta-4 desaturase activity Cellular component • endoplasmic reticulum membrane • integral component of membrane Biological process • sphingolipid metabolic process • sphinganine metabolic process • sphingolipid biosynthetic process • small molecule metabolic process • ceramide biosynthetic process • oxidation-reduction process Sources: Amigo / QuickGO
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

1. "Entrez Gene: Delta(4)-desaturase, sphingolipid 2".

Further reading

• Devlin CM, Lahm T, Hubbard WC, Van Demark M, Wang KC, Wu X, Bielawska A, Obeid LM, Ivan M, Petrache I (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, Tseng ZH (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.