Literature summary for 1.14.18.6 extracted from

Dan, P.; Edvardson, S.; Bielawski, J.; Hama, H.; Saada, A.
2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase (2011), Lipids Health Dis., 10, 84.

Application

Application	Comment	Organism
medicine	in blood and fibroblasts from patients harboring a deleterious FA2H mutatation, hydroxylated fatty acid sphingomyelin is present in normal amounts in patient lymphocytes, but decreases to a different extent in fibroblasts and erythrocytes	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)