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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
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
although ebeta,5alpha,6beta-triol is more specific than 7-KC, it has been found to be significantly elevated in patients with Niemann-Pick type A, a lysosomal storage disorder caused by mutations in the SMPD1 (show SMPD1 ELISA Kits) gene
A comprehensive updated review of already reported and newly identified SMPD1 (show SMPD1 ELISA Kits) variants of Niemann-Pick Types A and B disease has been presented. (Review)
a conserved haplotype and shared 280 Kb region around the SMPD1 (show SMPD1 ELISA Kits) gene was observed in the patients analyzed, indicating that the variant originated from a common ancestor
ASM (show SMPD1 ELISA Kits) activation may be involved in the pathophysiology of Kawasaki disease
These results indicate that increased EGR1 (show EGR1 ELISA Kits)/3 and ASMase (show SMPD1 ELISA Kits) expression play an important role in cellular ceramide increase by RSV treatment.
The results of this study suggested that disruptive mutations in SMPD1 (show SMPD1 ELISA Kits) constitute a risk factor for parkindon disease.
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