Homo sapiens sphingolipid delta 4 desaturase protein DES1 mRNA, comple - Nucleotide

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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.
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis. [Life Sci Alliance. 2024]
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.
Janer A, Morris JL, Krols M, Antonicka H, Aaltonen MJ, Lin ZY, Anand H, Gingras AC, Prudent J, Shoubridge EA. Life Sci Alliance. 2024 Jan; 7(1). Epub 2023 Nov 6.
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.

RefSeq alternative splicing
See 4 reference mRNA sequence splice variants for the DEGS1 gene.

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Nucleotide