Literature summary for 2.7.1.36 extracted from

Hager, E.J.; Tse, H.M.; Piganelli, J.D.; Gupta, M.; Baetscher, M.; Tse, T.E.; Pappu, A.S.; Steiner, R.D.; Hoffmann, G.F.; Gibson, K.M.
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome (2007), J. Inherit. Metab. Dis., 30, 888-895.

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Protein Variants

Protein Variants	Comment	Organism
additional information	deletion of one mevalonate kinase allele yields viable mice with significantly reduced liver mevalonate kinase enzyme activity. Cholesterol levels in tissues and blood, and isoprene end-products ubiquinone and dolichol in tissues are normal in Mvk+/- mice. Mevalonate concentrations are increased in spleen, heart, and kidney yet normal in brain and liver. While the trend is for higher IgA levels in Mvk+/- sera, IgD levels are significantly increased and the animals show increased serum tumor necrosis factor-alpha levels	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	-	murine model of hyper-IgD syndrome	-

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Release 2023.1 (January 2023)