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Literature summary for 2.4.1.92 extracted from

  • Li, H.; Turley, S.D.; Liu, B.; Repa, J.J.; Dietschy, J.M.
    GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice (2008), J. Lipid Res., 49, 1816-1828.
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining
Mus musculus
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Synonyms

Synonyms Comment Organism
GD2/GM2 synthase
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Mus musculus
GM3 synthase
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Mus musculus

General Information

General Information Comment Organism
malfunction in animals lacking either GM2/GD2 or GM3 synthase, tissue cholesterol concentrations and synthesis rates are normal in nearly all organs, and whole-animal sterol pools and turnover also are not different from control animals. Mice lacking both synthases, however, have small elevations in cholesterol concentrations in several organs, and the whole-animal cholesterol pool is marginally elevated. When either the GM2/GD2 or GM3 synthase activity is deleted in mice lacking Niemann-Pick type C function, the clinical phenotype is not changed, but lifespan is shortened. Mus musculus