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The protein encoded by H19 is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide.
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Human H19 ELISA Kit for Sandwich ELISA - ABIN416970
Awojoodu, Keegan, Lane, Zhang, Lynch, Platt, Botchwey: Acid sphingomyelinase is activated in sickle cell erythrocytes and contributes to inflammatory microparticle generation in SCD. in Blood 2014
this is the largest study on mutation analysis of patients with ASM (show SMPD1 ELISA Kits)-deficient Niemann-Pick disease reported in literature and also the first study on the SMPD1 (show SMPD1 ELISA Kits) gene mutation spectrum in India.
ASM (show SMPD1 ELISA Kits) and ceramides, together with STX6 (show STX6 ELISA Kits) and cholesterol, constitute a new regulatory mechanism for the exit of Met from the Golgi during its biosynthetic route.
the p.Ala359Asp mutation causes structural alterations in the hydrophobic environment where ASM (show SMPD1 ELISA Kits) is located, decreasing its enzymatic activity
Airway cells with lower SMPD1 (show SMPD1 ELISA Kits) activity increases neutrophil chemotaxis towards them.
The results identify acid sphingomyelinase (show SMPD1 ELISA Kits) as a novel target of Lycium Chinense berries to decrease saturated/unsaturated fatty acid sphingomyelin ratio, known to be useful for cell health. Consistent with these data, the berries regulate specifically gene expression to protect cells from apoptosis.
ASMase (show SMPD1 ELISA Kits) mediated the 50-Hz MF-induced EGFR (show EGFR ELISA Kits) clustering via ceramide which was produced from hydrolyzation on lipid rafts
ASM (show SMPD1 ELISA Kits) is a negative regulator of regulatory T Cell development.
We report on an infant with a new frameshift mutation (c.575dupG) of the SMPD1 (show SMPD1 ELISA Kits) gene.
Seven novel mutations (c.518-519insT, c.562_563insC, c.792Gdel, c.949G>A, c.1487_1499delACCGTGTGTACCA, c.1495T>C and c.1670T>C) of the SMPD1 (show SMPD1 ELISA Kits) gene were identified in four patients. Only one fetus had two mutations of the SMPD1 (show SMPD1 ELISA Kits) gene of amniocytes
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified.
, sphingomyelin phosphodiesterase