RecName: Full=Sphingolipid delta(4)-desaturase DES1; AltName: Full=Cel - Protein

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Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism. [J Lipid Res. 2024]
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.
Dei Cas M, Montavoci L, Pasini C, Caretti A, Penati S, Martinelli C, Gianelli U, Casati S, Nardecchia F, Torella A, et al. J Lipid Res. 2024 Mar; 65(3):100517. Epub 2024 Feb 10.
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy. [J Lipid Res. 2023]
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Hülsmeier AJ, Toelle SP, Bellstedt P, Wentzel C, Bahr A, Kolokotronis K, Hornemann T. J Lipid Res. 2023 Dec; 64(12):100464. Epub 2023 Oct 27.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity. [J Clin Invest. 2023]
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juliá-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, et al. J Clin Invest. 2023 May 15; 133(10). Epub 2023 May 15.

RefSeq protein isoforms
See 4 reference sequence protein isoforms for the DEGS1 gene.

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O15121 [Domain Mapping of Disease Mut...]
O15121
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
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ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Sphingolipid delta(4)-desaturase DES1; AltName: Full=Cell migratio...
RecName: Full=Sphingolipid delta(4)-desaturase DES1; AltName: Full=Cell migration-inducing gene 15 protein; AltName: Full=Degenerative spermatocyte homolog 1; AltName: Full=Dihydroceramide desaturase-1; AltName: Full=Membrane lipid desaturase; AltName: Full=Retinol isomerase
gi|74739483|sp|O15121.1|DEGS1_HUMAN

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