DEGS2

DEGS2
Identifiers
AliasesDEGS2, C14orf66, DES2, FADS8, delta(4)-desaturase, sphingolipid 2, delta 4-desaturase, sphingolipid 2
External IDsMGI: 1917309 HomoloGene: 23617 GeneCards: DEGS2
Gene location (Human)
Chr.Chromosome 14 (human)[1]
Band14q32.2Start100,143,957 bp[1]
End100,160,163 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

123099

70059

Ensembl

ENSG00000168350

ENSMUSG00000021263

UniProt

Q6QHC5

Q8R2F2

RefSeq (mRNA)

NM_206918

NM_001171002
NM_027299

RefSeq (protein)

NP_996801

NP_001164473
NP_081575

Location (UCSC)Chr 14: 100.14 – 100.16 MbChr 12: 108.68 – 108.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Delta(4)-desaturase, sphingolipid 2 is a protein that in humans is encoded by the DEGS2 gene.[5]

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000168350 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021263 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "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.


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