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The protein encoded by LMF1 resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Additionally we are shipping LMF1 Kits (9) and LMF1 Antibodies (8) and many more products for this protein.
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Our results suggest that LMF1 mutations are involved in a substantial proportion of cases with severe primary hypertriglyceridemia, putting together the moderate-aggressive effect of rare mutations with polymorphisms classically associated with this disease.
Thus we provide evidence for the critical role of the N-terminus of LMF1 for the maturation of LPL (show LCP1 Proteins) and relevant ratio of chaperone to substrate.
Lipase maturation factor 1 (Lmf1) is required for endothelial lipase (show LIPG Proteins) activity. Mutations in Lmf1 result in severe hypertriglyceridemia in mice as well as in human subjects.
Results show that cotransfection of LPL (show LCP1 Proteins) with wild-type Lmf1 restores its ability to support normal lipase (show LIPG Proteins) maturation.
Data show that shows the arrangement of an evolutionarily conserved domain within LMF1 (DUF1222) that is essential to lipase (show LIPG Proteins) maturation.
Second novel pathogenic mutation in LMF1 gene in a patient with severe hypertriglyceridemia.
determined the alpha-synuclein-binding domain of beta-III tubulin and demonstrated that a short fragment containing this domain can suppress alpha-synuclein accumulation in the primary cultured cells
variation in Lmf1 expression is a posttranslational determinant of LPL (show LPL Proteins) activity.
Results show that cotransfection of LPL (show LPL Proteins) with wild-type Lmf1 restores its ability to support normal lipase (show LIPG Proteins) maturation.
Study identified the gene containing the cld mutation as Tmem112 and rename it Lmf1 (Lipase maturation factor 1); Lmf1 encodes a transmembrane protein with an evolutionarily conserved domain of unknown function that localizes to the ER.
The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene.
lipase maturation factor 1
, transmembrane protein 112