Sphingolipid delta

Definition:

Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase.

References:

[1]. Philipp Ternes, et al. Identification and characterization of a sphingolipid delta 4-desaturase family. J Biol Chem. 2002 Jul 12;277(28):25512-8. [Content Brief]

[2]. Devesh C Pant, et al. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest. 2019 Mar 1;129(3):1240-1256. [Content Brief]

[3]. Gergely Karsai, et al. DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. J Clin Invest. 2019 Mar 1;129(3):1229-1239. [Content Brief]

[4]. Yukiko Mizutani, et al. Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation. FEBS Lett. 2004 Apr 9;563(1-3):93-7. [Content Brief]

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